Deformidad congénita en dedos de manos y pies asociados a camptodactilia. Presentación de una familia afectada / Congenital deformity in fingers and toes associated with camptodactyly. Presentation of an affected family

Las deformidades de los dedos son alteraciones frecuentes y en ocasiones se asocian a camptodactilia. Estas pueden ser congénitas o adquiridas, estar asociadas a teratógenos durante la etapa prenatal o determinado por un gen heredado que provoque este defecto y manifestarse de forma aislada o en varios miembros de una misma familia, segregándose con un patrón de herencia autosómico dominante. Se presenta una familia con tres miembros afectados a partir de una progenitora con el defecto en los dedos de las manos y los pies, que tiene dos descendientes con las mismas deformidades, sin otras alteraciones. Se considera un defecto congénito con implicación estética, en la movilidad de todos los dedos en alguna medida. Resulta necesario el seguimiento multidisciplinario, en conjunto ortopédicos, psicólogos y genetista clínico, para brindar un adecuado asesoramiento genético a la familia, informar el posible tratamiento quirúrgico y la rehabilitación oportuna para elevar la calidad de vida de estos afectados.

Finger deformities are frequent alterations and are sometimes associated with camptodactyly. These can be congenital or acquired, and may be associated with teratogens during prenatal stage or determined by an inherited gene that causes this defect, as well as appear in isolation or in several members of the same family, segregating with an autosomal dominant inheritance pattern. We present a family with three affected members from a mother with a defect in fingers and toes, who has two descendants with the same deformities, without other alterations. It is considered a congenital defect with aesthetic implications, and repercussions, to some extent, on the mobility of all fingers. Multidisciplinary follow-up is necessary, together with orthopedics, psychologists, and clinical geneticists, to provide adequate genetic counseling to the family, inform possible surgical treatment, and timely rehabilitation to improve the quality of life of those affected subjects.

Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura / Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

Hipocondroplasia en pediatría: reporte de un caso / Hypocondroplasya in pediatrics: case study / Hipocondroplasia em pediatia: relato de caso

La hipocondroplasia es una displasia esquelética caracterizada por baja estatura, constitución robusta, brazos y piernas desproporcionadamente cortos, manos y pies anchos y cortos, leve laxitud articular y macrocefalia. Los niños generalmente se presentan como pequeños, con velocidad de crecimiento disminuida, que conduce a una baja estatura y desproporción de las extremidades. La hipocondroplasia en la mayoría de los casos se hereda con carácter autosómico dominante, aunque se detectan numerosos casos esporádicos. El diagnóstico requiere una exhaustiva anamnesis y adecuada exploración física. Es importante valorar algunos indicadores de crecimiento como: peso para la edad, longitud/talla para la edad, relación entre peso y longitud/talla, velocidad de crecimiento, talla diana genética, medidas de segmentos corporales, entre otros. Las radiografías esqueléticas permiten diagnosticar la mayoría de las displasias óseas. Los estudios moleculares suelen ser la prueba de confirmación y se solicitan ante una sospecha diagnóstica. Es importante incluir las displasias óseas en el diagnóstico diferencial de la talla baja y tenerlas en cuenta ante cualquier caso de talla baja disarmónica con alteraciones fenotípicas. La hipocondroplasia en la actualidad, no es una indicación aprobada para tratamiento con hormona del crecimiento. Se presenta un caso clínico de una niña de 14 meses, con talla baja severa, desproporcionada, que presentó dificultades para llegar al diagnóstico definitivo de hipocondroplasia.

Hypochondroplasia is a skeletal dysplasia characterized by short height, robust build, disproportionately short arms and legs, short and broad hands and feet, mild joint laxity, and macrocephaly. Children generally show slow growth rate, which leads to short stature and limb disproportion. Hypochondroplasia is mostly inherited with an autosomal dominant character, although many sporadic cases have been detected. Diagnosis requires a thorough history and adequate physical examination. It is important to assess some growth indicators such as: weight for age, length/height for age, relationship between weight and length/height, growth speed, genetic target height, measurements of body segments, among others. Skeletal XRs can diagnose most bone dysplasias. Molecular studies are usually the confirmatory test and are requested when a diagnosis is suspected. It is important to include bone dysplasias in the differential diagnosis of short stature and to take them into account for any disharmonious short stature with phenotypic alterations. Hypochondroplasia is currently not an approved indication for growth hormone therapy. We present a clinical case of a 14-month-old girl, with a severe, disproportionate short stature, who presented difficulties in her definitive hypochondroplasia diagnosis.

A hipocondroplasia é uma displasia esquelética caracterizada por baixa estatura, constituição robusta, braços e pernas desproporcionalmente curtos, mãos e pés largos e curtos, frouxidão articular leve e macrocefalia. As crianças geralmente são pequenas, com diminuição da velocidade de crescimento, o que leva à baixa estatura e desproporção dos membros. A hipocondroplasia na maioria dos casos é herdada com caráter autossômico dominante, embora sejam detectados numerosos casos esporádicos. O diagnóstico requer uma história completa e um exame físico adequado. É importante avaliar alguns indicadores de crescimento como: peso para idade, comprimento/altura para idade, relação entre peso e comprimento/altura, taxa de crescimento, estatura alvo genético, medidas de segmentos corporais, entre outros. As radiografias esqueléticas permitem o diagnóstico da maioria das displasias ósseas. Os estudos moleculares são geralmente o teste de confirmação e são solicitados quando há suspeita de diagnóstico. É importante incluir as displasias ósseas no diagnóstico diferencial da baixa estatura e considerá-las em qualquer caso de baixa estatura desarmônica com alterações fenotípicas. A hipocondroplasia não é atualmente uma indicação aprovada para o tratamento com hormônio de crescimento. Apresenta-se o caso clínico de uma menina de 14 meses, com baixa estatura grave e desproporcional, que apresentou dificuldades em chegar ao diagnóstico definitivo de hipocondroplasia.

Clinical characteristics of 170 cases of macrodactyly / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics of 170 cases of macrodactyly.@*METHODS@#Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.@*RESULTS@#Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative.@*CONCLUSION@#Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.

Tratamiento de las malformaciones en extremidades en el síndrome de bridas amnióticas: a propósito de un caso / Amniotic band syndrome: management of skeletal limb abnormalities. A case report

El síndrome de bridas amnióticas es un complejo de anomalías congénitas causadas por la rotura prematura del amnios, por lo que se originan bandas fibrosas que comprimen determinadas regiones del feto. Afecta a entre 1:1200 y 1:15 000 recién nacidos vivos según las series consultadas.La clínica típica consiste en alteraciones en las extremidades (anillos de constricción, amputaciones asimétricas más o menos distales, sindactilias y pie zambo), y se han descrito alteraciones toracoabdominales o faciales. Recientes trabajos han demostrado la utilidad del método de Ponseti en el tratamiento del pie zambo asociado al síndrome de bridas amnióticas. Se presenta el caso de un recién nacido que padecía un síndrome de bridas amnióticas y se ahonda en el manejo y la resolución quirúrgica de las malformaciones en las extremidades. En especial, se analiza la utilización del método de Ponseti en el tratamiento del pie zambo congénito sindrómic

Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies.Mostly affected parts of fetus are limbs (asymmetric amputations, syndactyly and clubbed foot) but facial and thoracoabdominal abnormalities have also been described.Recent works have proved the utility of Ponseti method to treat clubfoot associated with amniotic band syndrome. We report the case of a newborn with amniotic band syndrome focusing on management and surgical repair of limbs deformities. Especially, we highlight the use of Ponseti method in treatment of syndromic clubfoot

Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical feature of a fetus with split hand-foot malformation (SHFM) and to explore its etiology.@*METHODS@#Ultrasonographic finding of the fetus and X-ray examination of the abortus were reviewed. Genomic copy number variations (CNVs) of the fetus was analyzed by next-generation sequencing (NGS). Its parents were subjected to chromosomal karyotyping, NGS and fluorescence in situ hybridization (FISH) assays. Real-time fluorescence quantitative PCR was used to measure the expression of genes from the region containing abnormal CNVs.@*RESULTS@#Ultrasonography and X-ray revealed that the right hand and both feet of the fetus were in a V-shape, which was suggestive of SFHM. The results of NGS revealed that the fetus has carried a 0.36 Mb deletion at 7q21.3 region. FISH and NGS analysis of both parents were normal. Real-time fluorescence quantitative PCR confirmed that the fetus carried a single copy of DYNC1I1 gene, while the copy numbers of SEM1, DLX5 and DLX6 genes were normal.@*CONCLUSION@#The 7q21.3 microdeletion probably underlies the SHFM of the fetus, which has a de novo origin.

Genetic analysis of a pedigree affected with congenital split-hand/foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.

Rabbit growth plate morphology in temporary bilateral blocking / Morfología de la placa de crecimiento de conejos durante bloqueo bilateral temporario

Blocking of the growth plate (GP) using plates with screws (tension band plating) is a modern method used to correct deformities and moderate leg length discrepancy in growing children. Determining the duration of temporary bilateral blocking without the occurrence of irreversible changes of GP is of paramount importance important. Methods: Two-month-old Californian breed male rabbits (n=30) were exposed to bilateral blocking of the distal GP of the right femur locking plates with screws for 3, 5, and 7 weeks. The fixators were removed after 5 and 7 weeks in 18 rabbits and 3 weeks after that, animals were sacri!ced. The contralateral limb was used as a control. Histological, histomorphometric, and X-ray analyses were performed. Results: During GP blocking, its height gradually decreased. This decreased was more pronounced after 7 weeks. Destructive changes progressed with an increase in the blocking duration. Three weeks after discontinuation of the bilateral blocking that lasted 5 weeks, the height of the GP signi!cantly increased 1.2 times on the lateral side and 1.9 times on the medial side (p<0.001) compared to the control. When blocking was discontinued after 7 weeks, the structure of the GP was partially restored after 3 weeks, the height of GP signi!cantly increased 1.2 times on the lateral side, and 1.07 times on the medial side (p<0.01) compared to the control. Conclusion: Restoration of the structuralfunctional features of the GP after the removal of the plates depends on the duration of temporary bilateral blocking, which must be taken into account in the clinical setting. (AU)

El bloqueo de la placa de crecimiento (PC) utilizando placas con tornillos (banda de tensión) es un método moderno utilizado para corregir deformidades y alteraciones moderadas en la longitud de las piernas en niños en crecimiento. Es de suma importancia determinar cuál debe ser la duración del bloqueo bilateral temporal sin que ocurran cambios irreversibles en la PC. Métodos: Conejos machos de raza californiana de dos meses de edad (n = 30) fueron expuestos al bloqueo bilateral de la PC distal colocando placas del fémur derecho con tornillos durante 3, 5 y 7 semanas. Los fijadores fueron retirados después de 5 y 7 semanas en 18 de los conejos, y 3 semanas después los animales fueron sacrificados. La extremidad contralateral se utilizó como control. Se realizaron análisis histológicos, histomorfométricos y de rayos X. Resultados: Durante el bloqueo de la PC, su altura disminuyó gradualmente. Esta disminución fue más pronunciada después de 7 semanas. Los cambios destructivos se incrementaron a medida aumentaba la duración del bloqueo. Tres semanas después de la interrupción del bloqueo bilateral que duró 5 semanas, la altura de la PC aumentó significativamente 1.2 veces en el lado lateral y 1.9 veces en el lado medial (p <0.001) en comparación con el control. Conclusión: La restauración de las características funcionales estructurales de la PC después de la extracción de las placas depende de la duración del bloqueo bilateral temporal, lo que debería tenerse en cuenta en el tratamiento clínico de estas alteraciones. (AU)

Dolor fantasma en niños y jóvenes amputados congénitos: prevalencia y características clínicas / Phantom pain in children and youth with congenital amputations: prevalence and clinical characteristics

Introducción: El dolor es una patología discapacitante, que en niños está siendo abordada en los últimos tiempos, siendo el dolor fantasma en amputados congénitos una complicación impensada hace algunos años, considerando teorías que describían que carecían de la madurez biológica suficiente para experimentarlo. Actualmente, existe literatura que reconoce una prevalencia de dolor fantasma de 3,7 a 20% en la población de amputados congénitos. Objetivo general: Evaluar población de amputados congénitos del Instituto Teletón Santiago para determinar incidencia, prevalencia lápsica y características clínicas del dolor fantasma. Pacientes y Métodos: Estudio descriptivo de prevalencia, con revisión de ficha clínica para registro de variables demográficas y clínicas, y aplicación de encuesta telefónica al total de pacientes que asintieran y contaran con el consentimiento de sus padres. Se incluyó a todos los pacientes de 10 o más años; se excluyó a los con hipoacusia asociada o con imposibilidad administrativa para contactarlos. Resultados: 57 pacientes, edad promedio 18,6 años, 59,6% con deficiencia longitudinal. Ningún paciente presentó dolor fantasma en el último mes en la población estudiada. La prevalecia lápsica fue de 7,0%. Un 24,6% refirió además presentar sensación fantasma alguna vez en su vida y un 5,3% haber presentado dolor en el último año. Conclusión: Existe dolor fantasma en la población de pacientes amputados congénitos en los rangos de prevalencia encontrados en la literatura internacional contribuyendo a la evidencia existente. Este es el primer estudio en nuestro país que evalúa dolor en deficiencias congénitas y constituye una línea de base para estudios adicionales.

Introduction: Pain is a crippling pathology, which has been addressed in children only in recent times, and phantom pain in congenital amputees was a complication unthought to exist some years ago, considering theories that described that they lacked biological maturity enough to experience it. Currently, there is literature that recognizes a prevalence of phantom pain of 3.7 to 20% in congenital amputees. Overall objective: To evaluate the in vivo amputee population of Instituto Teletón Santiago, to determine incidence, lapses prevalence and clinical characteristics of phantom pain in these patients. Patients and Methods: A prevalence descriptive study was carried out, with a review of the clinical files to register demographic and clinical variables and application of a telephone survey to the total number of Instituto Teletón Santiago patients who agreed to participate and had the consent of their parents. We included all patients aged 10 years and over; excluding those with associated hearing loss, or inability to contact for administrative reasons. Results: 57 patients, mean age 18,6 years, 59,6% with longitudinal deficiency. No patient refered phantom pain during de last month in the study population. The lapsic prevalence was 7,0%. 24,6% of the population studied reported phantom feeling at som time in their lives and 5,3% had phantom pain during the last year. Conclusion: There is phantom pain in the population of congenital amputees in the prevalence ranges found in the international literature contributing to the existing evidence. This is the first study in our country that evaluates pain in congenital deficiencies and constitutes a baseline for additional studies.

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion

Abstract: CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.

Defining a critical period in calvarial development for Hedgehog pathway antagonist-induced frontal bone dysplasia in mice / 国际口腔科学杂志·英文版

The Hedgehog (Hh) signalling pathway is essential for cellular proliferation and differentiation during embryonic development. Gain and loss of function of Hh signalling are known to result in an array of craniofacial malformations. To determine the critical period for Hh pathway antagonist-induced frontal bone hypoplasia, we examined patterns of dysmorphology caused by Hh signalling inhibition. Pregnant mice received a single oral administration of Hh signalling inhibitor GDC-0449 at 100 mg•kg or 150 mg•kg body weight at preselected time points between embryonic days (E)8.5 and 12.5. The optimal teratogenic concentration of GDC-0449 was determined to be 150 mg•kg. Exposure between E9.5 and E10.5 induced frontal bone dysplasia, micrognathia and limb defects, with administration at E10.5 producing the most pronounced effects. This model showed decreased ossification of the frontal bone with downregulation of Hh signalling. The osteoid thickness of the frontal bone was significantly reduced. The amount of neural crest-derived frontal bone primordium was reduced after GDC-0449 exposure owing to a decreased rate of cell proliferation and increased cell death.

Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2 / 中华医学遗传学杂志

OBJECTIVE@#To detect pathogenic mutation of DOCK6 gene in a patient with convulsive seizure and refractory epilepsy.@*METHODS@#CytoScan HD-Array and next generation sequencing were used to detect the potential mutation in the patient.@*RESULTS@#The proband has carried compound heterozygous mutations of c.188C>T (p.Arg63Gln) and c.5374C>T (p.Glu1792Lys) of the DOCK6 gene, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatic analysis indicated that the two amino acids are highly conserved. Based on the ACMG guidelines, the c.188C>T mutation was predicted to be likely pathogenic, while the c.5374C>T mutation was of uncertain significance.@*CONCLUSION@#The compound heterozygous mutations of c.188C>T (p.Arg63Gln) and c.5374C>T (p.Glu1792Lys) of the DOCK6 gene probably underlie the disease in this patient.

Genetic analysis of one family with congenital limb malformations / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*METHODS@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*RESULTS@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*CONCLUSION@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.

Hipoplasia dérmica focal (síndrome de Goltz) / Focal dermal hypoplasia (Goltz syndrome)

Resumen: Introducción: La hipoplasia dérmica focal o síndrome de Goltz es una rara genodermatosis de herencia dominante ligada al X, que afecta al tejido proveniente de las placas del ectodermo y del mesodermo. El cuadro clínico se caracteriza por alteraciones cutáneas, oftálmicas, neurológicas, dentales, ungueales, bucales, de tejidos blandos y esqueléticas. El diagnóstico se realiza por los hallazgos clínicos en un individuo con alteraciones ectodérmicas y malformaciones características en las extremidades. El manejo es multidisciplinario y, al igual que el pronóstico, depende de las alteraciones específicas que presente cada paciente. Caso clínico: Se presenta el caso de un recién nacido de sexo femenino, de 15 días de vida, con zonas de alopecia en piel cabelluda, herniación de tejido celular subcutáneo en varias áreas de todos los segmentos corporales, escotadura en ala nasal, hendidura en encía superior, defecto grave de extremidad superior izquierda con rizomelia (acortamiento de segmento proximal) y aplasia de radio, así como ectrodactilia de miembro pélvico derecho. Todos los hallazgos son compatibles con hipoplasia dérmica focal de acuerdo con los criterios diagnósticos. Conclusiones: Se presenta el caso de una paciente recién nacida con síndrome de Goltz.

Abstract: Background: Focal dermal hypoplasia or Goltz syndrome is a rare X-linked dominant inherited genodermatosis, affecting both the ectodermal and mesodermal tissue. Clinical manifestations include skin abnormalities, defects in eyes, teeth, nails, mouth, soft tissues and skeleton. The diagnosis is based on clinical findings and is suspected in individuals with ectodermal abnormalities and characteristic malformations in the extremities. The management is multidisciplinary and, like the prognosis, depends on the specific alterations that each patient presents. Case report: We report the case of a 15-day-old female newborn with alopecic areas on the scalp, herniation of subcutaneous cellular tissue at the lumbar level, nasal wing notch, severe left superior limb defect with rhizomelia (proximal segment shortening) and radio aplasia, as well as right leg ectrodactyly, areas of atrophy compatible with focal dermal hypoplasia according to diagnostic criteria. Conclusions: We present a case of female newborn patient with Goltz syndrome.

Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery / Analgesia neuraxial em uma parturiente com síndrome de Vacterl em trabalho de parto normal

Abstract Introduction: The term VACTERL is an acronym for an association of congenital malformations: including vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies. VACTERL anomalies pose a formidable challenge to anesthesiologists. We describe the anesthetic management of a parturient with VACTERL association, who underwent neuraxial analgesia for labor and vaginal delivery. Case report: A 23 year old primigravida at 39 weeks gestation presented in labor at 4 cm cervical dilatation, completely effaced, requesting labor analgesia. Past medical history included VACTERL association with an imperforate anus and a partial endocardial cushion defect, both repaired in early childhood. She also had significant dorso-lumbar scoliosis with an extra lumbar vertebra. An MRI performed at 14 years age revealed the above findings with no spinal cord abnormalities. With a normal neurologic exam, a combined spinal epidural technique was performed. Despite significant scoliosis, the epidural space was identified at approximately the L3-L4 interspace at a depth of 5 cm. Spinal Fentanyl 25 mcg was administered followed by continuous patient-controlled epidural analgesia. The patient experienced excellent pain relief throughout her labor, and had an uneventful vaginal delivery 5 h after epidural placement. Discussion: The rarity of VACTERL association in the obstetric population with its extensive anomalies mandates a multidisciplinary approach in the prenatal period as it can pose major challenges to all health care providers, including airway, ventilatory, cardiac and neuraxial problems. This is the first reported case of a successful and safe neuraxial technique in a laboring patient with the VACTERL association with albeit limited vertebral and spinal cord anomalies.

Resumo Introdução: O termo Vacterl é um acrônimo para uma associação de malformacões congênitas que inclui anomalias vertebral, anal, cardíaca, traqueal, esofágica, renal e dos membros (Limbs em inglês). As anomalias Vacterl representam um enorme desafio para os anestesiologistas. Descrevemos o manejo anestésico de uma parturiente com síndrome de Vacterl submetida à analgesia neuraxial para parto normal. Relato de caso: Paciente primípara, 23 anos, 39 semanas de gestação, apresentava em trabalho de parto 4 cm de dilatação cervical, apagamento completo, exigiu analgesia de parto. A história médica incluía síndrome de Vacterl com ânus imperfurado e defeito parcial do coxim endocárdico, ambos corrigidos na primeira infância. A paciente também apresentava escoliose dorso-lombar acentuada com uma vértebra lombar adicional. Uma RM feita aos 14 anos revelou os achados mencionados acima sem anormalidades na medula espinhal. Com um exame neurológico normal, a técnica anestésica combinada raquiperidural (CRP) foi usada. Apesar de escoliose significativa, o espaço peridural foi identificado próximo ao interespaço L3-L4 a uma profundidade de 5 cm. Fentanyl (25 mcg) foi administrado por via espinhal, seguido de analgesia peridural contínua controlada pela paciente. A paciente sentiu grande alívio da dor durante todo o trabalho de parto; o parto vaginal ocorreu 5 horas após a anestesia CRP sem intercorrências. Discussão: A raridade da síndrome de Vacterl na população obstétrica com suas extensas anomalias exige uma abordagem multidisciplinar no pré-natal porque pode representar grandes desafios para todos os prestadores de cuidados de saúde, inclusive problemas respiratórios, de ventilação, cardíacos e do neuroeixo. Este é o primeiro caso relatado de uma técnica neuraxial bem-sucedida e segura em uma paciente em trabalho de parto com síndrome de Vacterl, embora com anomalias limitadas da coluna vertebral e medula espinhal.

Síndrome de Grebe: Reporte de un caso / Grebe syndrome. Case report

La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y superiores. Conocer este tipo de síndrome orienta a dar mejores diagnósticos y permite el diagnóstico diferencial con patologías más comunes, como la acondroplasia. Se presenta una paciente de 35 años con diagnóstico de síndrome de Grebe desde los 10 años. El síndrome de Grebe tiene una muy baja incidencia; por este motivo, es poco conocido por el cuerpo médico en general y aun menos para los ortopedistas, quienes serán los encargados de tratar a estos pacientes. Nivel de Evidencia: IV

Grebe syndrome is a rare autosomal recessive disorder that belongs to the group of osteochondrodysplasias. Clinically, it is characterized by severe dysmorphism, marked micromelia and deformities of the lower and upper limbs. Recognition of this syndrome allows to give better diagnoses and to establish a differential diagnosis with more common pathologies, such as achondroplasia. We present a 35-year-old woman with diagnosis of Grebe syndrome at the age of 10. Grebe syndrome has a very low incidence; therefore, it is unknown by general physicians and still less by orthopedic surgeons, who will treat these patients. Level of Evidence: IV

A successful pregnancy outcome in a case of maternal VACTERL / Philippine Journal of Obstetrics and Gynecology

@#Vertebral anomalies-anal atresia-cardiac abnormalities-tracheoesophageal fistula-renal agenesis-limb (VACTERL) defects association is a rare congenital disease. While most scientific literature focus on the clinical presentation and management of pediatric patients with this condition, this paper focuses on the challenges faced by a 22-year-old primigravid, who was able to carry a pregnancy to term, despite the many anomalies associated with being afflicted with VACTERL.

Asociación LACHT con hipoplasia de la vía aérea superior. Caso clínico / LACHT association with hypoplasia of the upper airway. Clinical case

Resumen Introducción: La asociación Mardini-Nyhan o LACHT es una condición clínica de baja prevalência que cursa con alteraciones pulmonares, cardíacas y de las extremidades. Su etiología no está clara mente documentada hasta la fecha. Objetivo: Describir el caso de una niña de 4 meses y realizar una revisión de la literatura de los casos reportados sobre esta asociación, con el propósito de exponer las alteraciones encontradas y de esta forma orientar el diagnóstico temprano de esta entidad. Caso clínico: Niña de 4 meses de edad que ingresa a cuidado intensivo en insuficiencia respiratoria mixta, con alteraciones pulmonares, cardíacas y de extremidades que cumplen criterios para la asociación LACTH, se documenta adicionalmente hipoplasia de la vía aérea superior, que empeora la evolución, aumenta la dificultad en la ventilación mecánica y favorece el desenlace fatal a los 7 días de hospitali zación. Conclusiones: La asociación LACTH es una patología poco prevalente en la cual los hallazgos clínicos permiten sospechar el diagnóstico. Es caso clínico sería el primer caso diagnosticado en el continente americano y el caso número 11 descrito en la literatura mundial, aportando como nuevo hallazgo la asociación con hipoplasia de la vía aérea superior.

Abstract Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway.

Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment

No abstract available.