Síndrome de Bardet-Biedl: A propósito de un caso / Bardet-Biedl syndrome: About a case

El síndrome de Bardet-Biedl (SBB) es una entidad poco frecuente, con gran heterogeneidad clínica y genética. Pertenece a las ciliopatías y tiene un modo de herencia autosómico recesivo. Hasta la fecha se han identificado más de 26 genes asociados. Afecta múltiples sistemas con compromiso oftalmológico, renal, cognitivo, esquelético, gonadal y ponderal. Su diagnóstico se basa en criterios clínicos y se confirma mediante estudios genéticos específicos. Presentamos el caso de un paciente de 2 años y 7 meses de edad, con polidactilia, obesidad, retraso del neurodesarrollo y afección renal en quien se arribó al diagnóstico clínico de SBB con posterior confirmación mediante estudio molecular. Se detectó una variante patogénica en homocigosis en el gen BBS2. La sospecha y confirmación diagnóstica permitieron el manejo adecuado del paciente, planificar el seguimiento apropiado y completar el asesoramiento genético familiar

Bardet-Biedl syndrome (BBS) is a rare entity that holds a great clinical and genetic heterogeneity. It is a ciliopathy and has an autosomal recessive inheritance. To this day more than 26 associated genes have been identified. It affects multiple aspects predominantly ophthalmological, renal, cognitive, skeletal, gonadal and weight. The diagnosis is based on clinical criteria and confirmed by specific genetic studies. We describe a case of a 2-year-and 7 month old patient with polydactyly, obe39 sity, neurodevelopmental delay and kidney dysplasia in which clinical diagnosis was suspected by criteria and subsequently has confirmation by molecular study. An homozygous pathogenic variant was detected in the BBS2 gene. The diagnostic suspicion and later confirmation allowed the proper management of this patient as well as an appropriate follow-up and complete genetic family counseling

Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring short stature and postaxial polydactyly.@*METHODS@#A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.@*RESULTS@#The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent.@*CONCLUSION@#The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.

Analysis of variant of GLI3 gene in a child featuring autosomal dominant Pallister-Hall syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).@*METHODS@#DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.@*CONCLUSION@#The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.

Síndrome de Bardet Biedl: a propósito de un caso / Bardet Biedl syndrome: a case report

El síndrome de Bardet Biedl es un síndrome genético de herencia autosómica recesiva con compromiso multisistémico y gran variabilidad en su presentación clínica; son características la obesidad, la polidactilia, el hipogonadismo y las alteraciones renales, visuales y cognitivas. Pertenece a las llamadas ciliopatías. El diagnóstico es clínico y puede ser confirmado por estudios genéticos. No existe un tratamiento específico de la patología; se requiere un abordaje multidisciplinario. Se presenta el caso de una paciente de 13 años con obesidad e hiperfagia, diabetes tipo 2, hipotiroidismo, polidactilia, alteraciones del aprendizaje y alteraciones visuales. Se le realizó un panel genético para obesidad en el que se detectaron dos variantes heterocigotas patológicas en el gen BBS2.

Bardet Biedl syndrome is an autosomal recessive ciliopathie. It is a pleiotropic disorder characterised by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficitand hypogenitalism. Diagnosis is based on clinical features. Molecular genetic testing is available. There is no specific treatment, a multidisciplinary approach is required. We report the case of a 13-year-old female patient with obesity and hyperphagia, type 2 diabetes, hypothyroidism, polydactyly,cognitive deficit and visual impairment. A multigenic panel allowed the identification of two heterozygous pathogenic variants in the BBS2 gene.

Analysis of gene variant in a Chinese pedigree with preaxial polydactyly / 中华医学遗传学杂志

OBJECTIVE@#To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.@*METHODS@#The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.@*RESULTS@#The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).@*CONCLUSION@#The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.

Incurvación anterolateral congénita de la tibia asociada con polidactilia. Reporte de un caso y revisión bibliográfica / Congenital anterolateral tibial bowing associated with polydactyly: case report and literature review

La incurvación anterolateral congénita de la tibia asociada con polidactilia (congenital anterolateral tibial bowing associated with polydactyly) es una deformidad extremadamente rara. Solo se han documentado 21 casos en la bibliografía inglesa. Aunque existe una estrecha relación entre la incurvación anterolateral de la tibia, la seudoartrosis congénita de la tibia y la neurofibromatosis tipo 1, la incurvación anterolateral congénita de la tibia asociada con polidactilia es una entidad específica con un pronóstico más favorable. Comunicamos otro caso y también revisamos los casos de este cuadro ya reportados con respecto a las deformidades asociadas, el diagnóstico y el tratamiento. Nivel de Evidencia: IV

The congenital anterolateral tibial bowing associated with polydactyly (CABTP) is an extremely rare deformity. To the best of our knowledge, only 21 cases have been documented in the English literature. Although there is a strong relationship between anterolateral bowing of the tibia, congenital pseudoarthrosis of the tibia (CPT), and neurofibromatosis type 1 (NF1), CATBP is a specific entity associated with a more favorable prognosis. We report a new CABTP case and our literature review on the previously reported cases of CABTP concerning its associated deformities, diagnosis, and treatment. Level of Evidence: IV

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.

Mutation analysis in a large Chinese pedigree affected with preaxial polydactyly II / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutation in a large pedigree affected with preaxial polydactyly II.@*METHODS@#With informed consent obtained, peripheral blood samples were collected from the proband, her family members as well as 100 healthy controls. Genomic DNA was extracted. The zone of polarizing activity regulatory sequence (ZRS) of the SHH gene was amplified by PCR and subjected to bi-directional Sanger sequencing.@*RESULTS@#The pedigree had typical preaxial polydactyly II. A heterozygous C>G mutation at position 105 of the ZRS region was detected in all patients but none of the unaffected members and 100 healthy controls.@*CONCLUSION@#The heterozygous 105C>G mutation of the ZRS region probably underlies the disease in this pedigree.

Amalgamating osteotomy: A novel surgical technique for the reconstruction of bilateral preaxial polydactyly of the foot

INTRODUCTION@#Polydactyly of the foot is not uncommon, with the preaxial type or hallux duplication comprising 15% of cases.2 Metatarsal type preaxial polydactyly (MTPP) accounts for an estimated third of all reported preaxial polydactyly cases. Traditional surgical procedures for this condition frequently have drawbacks that include varying degrees of hallux varus and a bigger forefoot.1 Due to these disadvantages, developed a simple and effective technique for the reconstruction of MTPP.@*CASE REPORT@#Amalgamating osteotomy procedures were done for bilateral MTPP in an 18-month old girl who had been experiencing shoe ware difficulty. An excellent and pain-free functional outcome was achieved with good cosmetic appearance and an improved ability to wear various kinds of footwear.@*CONCLUSION@#Amalgamating osteotomy could be the procedure of choice for the reconstruction of metatarsal type preaxial polydactyly. Case series and long-term follow-ups should be done to compare outcomes with other surgical techniques.

Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with scoliosis, congenital dislocation of the hip joint and growth retardation by using next generation sequencing (NGS).@*METHODS@#Peripheral blood samples were obtained from the proband and his parents. Whole genomic DNA was extracted and subjected to NGS. Suspected variant was predicted by bioinformatic tools and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry compound heterozygous variants c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene, among which c.494T>C (p.Met165Thr) was inherited from her father and reported to be pathogenic by HGMD. c.848A>G (p.His283Arg) was inherited from her mother and was predicted to be likely pathogenic according to the ACMG 2015 guidelines.@*CONCLUSION@#The compound heterozygous variants of c.494T>C (p.Met165Thr) and c.848A>G (p.His283Arg) of the CANT1 gene probably underlie the disease in the proband.

Síndrome de Adams-Oliver en dos casos clínicos / Adams-Oliver Syndrom in two clinical cases

Introducción: El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome Objetivo: Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver. Presentación de casos: Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein. Conclusiones: Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura(AU)

Introduction: The Adams-Oliver syndrome is a heterogenic disease characterized by aplasia cutis congenita and terminal transverse limb defects, with a wide phenotypic spectrum of associated malformations. Different kinds of inheritance of this disease have been described. In Cuba, any cases of patients suffering this syndrome have not been presented or published so far. Objective: To provide evidence demonstrating the presentation of cases with Adams-Oliver syndrome. Cases report: Two cases of neonatal patients with Adams-Oliver syndrome are presented from the clinical point of view, both of which are sporadic. In addition to the aplasia cutis congenita and the terminal transverse defect of the limbs, one of the patients presented congenital cutis marmorata telangiectatic and Ebstein anomaly. Conclusions: Two newborns cases with Adams-Oliver syndrome, both of sporadic presentation and one of these with a congenital heart disease (Ebstein anomaly) not previously reported in the literature are presented(AU)

Analysis of Congenital Postaxial Polydactyly of the Foot Using Magnetic Resonance Imagings / 대한정형외과학회잡지

PURPOSE: We aimed to evaluate the magnetic resonance imaging (MRI) findings of congenital postaxial polydactyly of the foot. MATERIALS AND METHODS: Three-hundred and forty-seven feet of 288 patients who underwent congenital postaxial polydactyly or polysyndactyly correction were divided into five subtypes according to the radiographic shapes of deformity origins (widened metatarsal head, bifid, fused duplicated, incompletely duplicated, or completely duplicated). MRIs were assessed to determine whether they unrevealed areas were fused or separated. MRI was also used to assess cases with radiographic phalangeal aplasia. RESULTS: Huge variations were noted in MRIs. Fusion or separation at the base or head between original and extra digits were observed, and MRI effectively depicted phalangeal aplastic areas. CONCLUSION: MRI evaluations of congenital postaxial polydactyly of the foot are useful for determining the anatomical statuses which were not visualized by plain radiography (level of evidence: 3).

A Case of Rudimentary Polydactyly: Is It Truly Related to Polydactyly? / 대한피부과학회지

Rudimentary polydactyly is a congenital anomaly of the hand clinically ranging from a small wart-like tumor to a pedunculated structure near the thumb or little finger. The histology reveals a marked neural proliferation, dilated blood vessels, and some Meissner corpuscles in the dermis. The etiology is unknown and there are a few theories. First, Hare believed that it represented a vestigial form of supernumerary finger, and termed it rudimentary polydactyly. Since then, Shapiro et al. has argued that rudimentary polydactyly is an amputation neuroma after finding histological similarity between acquired traumatic neuroma and rudimentary polydactyly. Recently Brehmer- Andersson et al. asserted that rudimentary polydactyly is a neuroma that can arise in any area containing Meissner corpuscles after observing a penile lesion with similar histology as rudimentary polydactyly. We report a case of rudimentary polydactyly characteristically not showing any prominent Meissner corpuscles. With this case, we provide support for the theory of Shapiro et al.

Síndrome de McKittrick-Wheelock: una causa infrecuente de hipokalemia e injuria renal aguda. Caso clínico / McKrittick-Wheelock syndrome: report of one case

McKittrick-Wheelock syndrome is caused by chronic water and electrolyte hypersecretion from an intestinal tumor, usually a villous adenoma, located in the rectum or sigmoid. Patients often have dehydration, hypovolemic shock and kidney failure associated with hypokalemia, hyponatremia, hypochloremia and metabolic acidosis. We report a 62-year-old male, suffering chronic diarrhea for eight years who was admitted after a syncope. He had severe hypokalemia, hyponatremia, metabolic acidosis, hypovolemia and acute renal failure. After his metabolic disorders were corrected, a colonoscopy showed a large rectosigmoid tumor with the characteristics of a villous adenoma. During the follow up after the complete tumor resection, the patient has remained asymptomatic.

Síndrome oro-facial-digital / Oro-facial-digita syndrome

l síndrome orofaciodigital , es un grupo heterogéneo de trastornos del desarrollo de los cuales se han documentado al menos 13 variantes clínicas(1-3).Se transmite como un rasgo dominante ligado al cromosoma X. Se han reportado pocos casos en varones, ya que en general este trastorno genera letalidad en embriones masculinos en el primer o segundo semestre del embarazo (2).Conforma un cuadro clínicamente bien definido que debería ser reconocido en el recién nacido (4) y se asocia con manifestaciones clínicas a niveloral, facial y digital.El primer caso fue descrito por Mohr en 1941, seguido por un reporte de Papillon-League y Psaume en 1954; posteriormente, estos fueron denominados SOFD tipo 2 y 1, respectivamente (2,4).El SOFD tipo 1 a diferencia de los otros subtipos, es transmitido como un rasgo dominante ligado al cromosoma X. Es el único subtipo, del cual se ha identificado la mutación en el gen CXORF5, localizada en el brazo corto del cromosoma X (Xp22.2). El producto génico del SOFD1 es una proteína del centrosoma localizada en el cuerpo basal del cilio primario. (1-3,6). Se ha reportado una gran variabilidad clínica interfamiliar e intrafamiliar, así como 18 diferentes mutaciones en el SOFD 1 (6). La incidencia estimada es de 1: 50.000 a 250.000 nacidos vivos, afectando todas las razas por igual(2,5,6).Como su nombre lo indica, las principales manifestaciones se encuentran a nivel oral, facial y digital; sin embargo, otros órganos pueden estar afectados, lo que definiría el tipo específico de SOFD. Existen muy pocos casos reportados de los otros tipos, dada la amplia variabilidad en su expresión fenotípica; y también resulta muy dificultoso tipificar a los pacientes debido al solapamiento de las características clínicas (1-4). Entre las malformaciones orales se observan: labio superior muy corto, que suele acompañarse de una hendidura medial (45%) y frenillo grueso. El paladar se afecta con fisura medial amplia (80%) (Figs. 1 y 2); usualmente el paladar blando no existe, y en el óseo se presentan tres mamelones: uno central y dos laterales. El maxilar inferior dispone bandas fibrosas (frenillos) que adhieren los labios a las arcadas dentarias, las cuales están hendidas. Estas bandas se adhieren a la lengua fijándolas (anquiloglosia) y dividiéndola en varios mamelones (30-45%) (Figs. 1 y 2); muchas veces se encuentra tejido hamartomatoso (70%). El maxilar inferior también es hipoplásico y existe mala oclusión dentaria. (Fig. 2) Servin, Roxana y Col. Rev.Fac. Med. UNNE XXXVII: 1, 42-46, 2017Las malformaciones faciales incluyen: hipertelorismo, raíz nasal ancha con punta fina e hipoplasia de los cartílagos de las alas nasales; narinas pequeñas y antevertidas con diferencia de tamaño. También suelen apreciarse un aplanamiento mediofacial. La piel presenta millium en mejillas, frente y pabellón auricular (Figs. 1 y 2). Hay xerodermia y puede haber alopecía en cuero cabelludo. El pelo es seco y quebradizo. (Fig. 1)En miembros, las alteraciones más frecuentes se observan en manos (45%) tales como clinodactilia, braquidactilia y sindactilia. (Figs. 1 y 2)En los pies puede haber polisindactilia (casi siempre unilateral, preaxial). Los demás dedos son cortos e hipoplásicos. Fig. 1.Paciente de 10 meses, con los rasgos característicos. Arriba izq. labio superior fino, fisura palatina, mamelones linguales y milium en mejillas. Arriba der.clino y braquidactilia. Abajo: alopecia, cabello seco y quebradizo. Servin, Roxana y Col. Rev. Fac. Med. UNNE XXXVII: 1, 42-46, 2017A nivel de sistema nervioso central las malformaciones son variables (40%) puede existir porencefalia o hidrocefalia (que comúnmente se acompaña a agenesia total o parcial del cuerpo calloso), y su asociación con un retardo mental (40%). En aparato urinario se observan riñones poliquísticos en un 50% de los casos. El esqueleto también se ve afectado, evidenciándose huesos cortos y gruesos en manos y pies, muchas veces con osteoporosis (2-5,6).Los subtipos de este síndrome presentan características distintivas. La polidactilia se presenta en todos los subtipos, por lo que obviando esta característica, se menciona la Fig. 2.Madre de la paciente. Arriba izq. maloclusión dentaria, mamelones linguales y milium en mejillas. Arriba der. fisura palatina. Abajo: clino, braquidactilia, y en mano derecha sindactilia cutánea (membrana interdigital). Servin, Roxana y Col. Rev. Fac. Med. UNNE XXXVII: 1, 42-46, 2017clínica particular de los otros subtipos. El SOFD 1 es de carácter autosómico dominante ligado al X, predominando el millium y la poliquistosis renal. En el SOFD 2 (o Síndrome de Mohr-Majewski) se puede manifestar punta nasal bífida. La característica delSOFD 3 es el guiño ocular en sube y baja (alternado), los espasmos mioclónicos y el retraso mental. La nariz es bulbosa y las orejas son de implantación baja. En el SOFD 4 hay compromiso tibial, pectus excavatum y baja estatura. El SOFD 5 presenta fisura labial medial aislada. En el SOFD 6 (o Síndrome de Váradi-Papp) se distingue la polidactilia principalmente media y con metacarpos en forma de "Y"; también malformación cerebelar (ausencia de vermis). Se puede observar además displasia y agenesia renal (2).El SOFD 7 (o Síndrome de Whelan) fue reportado una sola vez, como un subtipo que compartía características del tipo 1 y 2. Durante el seguimiento, la paciente desarrolló clínica inherente al SOFD 1, por lo que se concluyó que inicialmente pertenecía al tipo 1, y se removió el SOFD 7 de la clasificación (8). El SOFD 8 es de herencia recesiva ligada al X. Clínicamente presenta, defectos tibiales, radiales y anormalidades epiglóticas. Por último, el SOFD 9 se caracteriza por anormalidades retinianas y fisura labial no medial (2).Es posible para el médico poder sospechar el diagnóstico de SOFD 1 mediante la fetoscopía o ultrasonografía, siendo la detección de polidactilia y defectos faciales, parámetros fundamentales; no obstante el diagnóstico es eminentemente clínico y debe hacerse en el recién nacido. Los diagnósticos diferenciales deben plantearse principalmente con subtipos de SOFD (2,4). Es de importancia la participación de un equipo multidisciplinario integrado por genetistas, pediatras, dermatólogos, cirujanos máxilo-faciales, psicólogos, odontopediatras para brindar asesoramiento y asistencia a estos pacientes. Aunque el pronóstico depende de las manifestaciones clínicas específicas y la gravedad de las mismas, es importante la identificación del tipo que presenta porque nos orientará en los estudios diagnósticos de otras posibles manifestaciones clínicas asociadas a ese tipo en particular (

Surgical Treatment of Axial Polysyndactyly and Postaxial Polydactyly of The Hand in Korean: A Clinical Analysis of 24 Cases

PURPOSE: Non-preaxial polydactyly of the hand refers to axial polysyndactyly involving the 2nd, 3rd, or 4th finger and postaxial polydactyly involving the 5th finger. It has a much lower incidence and a higher genetic penetrance than preaxial type. METHODS: Medical records of the patients who had operation for their polydactyly between July 1997 and July 2015 were retrospectively reviewed. The clinical data of the patients were investigated regarding demographics, clinical findings of the involved digits, foot involvement, and genetic penetrance. Through postoperative follow-up based on physical and radiologic examinations, we assessed functional and aesthetic outcomes, postoperative complications, and reoperation rate. RESULTS: Twenty-four patients (17 males and 7 females) underwent surgery for non-preaxial polydactyly of the hand. There were 15 postaxial type polydactyly, and 9 axial type polysyndactyly. Thirteen patients had bilateral involvement (54.2%), while 5 patients (20.8%) were right-sided and 6 patients (25%) were left-sided. In the axial type, 4th finger was the most frequently involved in 8 patients, followed by the 3rd finger in 1 patient. Thirteen patients (54.2%) had concurrent congenital foot anomalies. One patient (4.2%) had a family history of congenital hand anomaly. Patients with axial type polysyndactyly had poorer postoperative outcome than those with postaxial type, regarding reoperation rate. CONCLUSION: Non-preaxial polydactyly is a very rare congenital hand anomaly and the surgical outcome is not always promising especially in the axial type. Therefore, it is necessary to provide a sufficient preoperative counseling and to perform a meticulous surgery.

Progress of research on the pathogenesis of obesity in Bardet-Biedl syndrome / 中华医学遗传学杂志

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has been associated with leptin resistance and abnormal adipogenesis. However, its molecular etiology is not yet completely clear. Here the molecular mechanism of BBS-associated obesity is reviewed.

Postaxial Polydactyly of the Hands and Feet in Monozygotic Twins

Polydactyly is the most common congenital difference of the hand and foot presenting as a range of defects from minor soft tissue duplications to major bony abnormalities. Although polydactyly of the hand is reported to occur among approximately 1 in 1,000 live births, the co-occurrence of hand polydactyly on hands and polydactyly on feet is as rare as one out of 100,000 persons. We report a case of hand and foot polydactyly in twins. One of the twins had polydactyly on both hands and feet, the other had polydactyly on the right hand and both feet. Postaxial polydactyly in monozygotic twins appears on both hands and feet in a different form shows that polydactyly is caused by multiple factors. It has been reported that the mother's infection and drug in addition to hereditary factors are the causes for polydactyly, but since they are unknown yet, it is necessary to conduct a study of them.

ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the causative mutations in two Chinese Han families featuring triphalangeal thumbs (TPT) and preaxial polydactyly (PPD).</p><p><b>METHODS</b>Blood samples were collected from 9 members (2 affected) from family 1 and 14 members (7 affected) from family 2. After genomic DNA was extracted, the ZPA regulatory sequence (ZRS) region was analyzed with real-time quantitative PCR (qPCR) and Sanger sequencing. For family 1, haplotypes compassing the ZRS were also analyzed with short tandem repeats (STR) and single nucleotide changes.</p><p><b>RESULTS</b>No copy number mutation around the ZRS region was found in both families. Two heterogeneous mutations in the ZRS (406A>G and 105C>G) were found to co-segregate with the TPT/PPD malformation in family 1 and 2, respectively. Neither mutation was detected in 200 healthy individuals. Haplotype analysis and Sanger sequencing of family 1 indicated that the first TPT/PPD patient in the family was both germline and somatic mosaic for the 406A>G mutation.</p><p><b>CONCLUSION</b>Two pathogenic ZRS mutations, 105C>G and 406A>G, have been identified in two Chinese Han families with TPT/PPD, among which the 406A>G mutation was de novo.</p>

Defectos congénitos en un hospital de tercer nivel en Cali, Colombia / Congenital defects in a tertiary level hospital in Cali, Colombia

OBJETIVO: Determinar la prevalencia global e individual de los defectos congénitos diagnosticados al nacimiento en un hospital de referencia de la ciudad de Cali, Colombia, periodo 2011-2012 y comparar los resultados con lo reportado previamente para la misma institución. MÉTODOS: Se realizó vigilancia epidemiológica de defectos congénitos en el Hospital Universitario del Valle entre julio 2011 y junio 2012, siguiendo la metodología ECLAMC. Se realizaron tablas para ilustrar la distribución de la frecuencia de los defectos congénitos. RESULTADOS: Durante los 12 meses de estudio, se atendieron 5.669 nacimientos, de los cuales 109 presentaron al menos un defecto congénito, para una prevalencia de 1,92%. Para defectos congénitos específicos se registraron las prevalencias más altas para: polidactilia (24,69 x 10.000), apéndice preauricular (15,87 x 10.000), hidrocefalia (15,87 x 10.000), hidronefrosis (15,87 x 10.000). Al agruparlos, las prevalencias más altas fueron para los siguientes grupos: defectos de las extremidades (79,37 x 10.000), defectos del sistema nervioso central (49,39 x 10.000), defectos por disrupción vascular (40,57 x 10.000). CONCLUSIONES: En el periodo de vigilancia en la institución se encontró una prevalencia de defectos congénitos similar a la reportada previamente en la misma. Al agruparlos, las prevalencias más altas fueron para los defectos de las extremidades, defectos del sistema nervioso central y defectos por disrupción vascular. Los defectos congénitos relacionados con factores ambientales, principalmente defectos del tubo neural y defectos por disrupción vascular presentaron prevalencias más altas en comparación con lo reportado previamente.

AIMS: To determine the overall and individual prevalence of birth defects diagnosed at birth in a referral hospital in Cali, Colombia, in the period 2011-2012 and compare the results with previously reported for the same institution. METHODS: Epidemiological surveillance of birth defects was performed at the Hospital Universitario del Valle between July 2011 and June 2012, following ECLAMC methodology. Tables were performed to illustrate the frequency distribution of birth defects. RESULTS: During the 12 months of study there were 5,669 births, of which 109 had at least one birth defect, for a prevalence of 1.92%. For specific birth defects, the highest prevalence were recorded for polydactyly (24.69 x 10,000), auricular appendage (15.87 x 10,000), hydrocephalus (15.87 x 10,000), hydronephrosis (15.87 x 10,000). By grouping, the highest prevalence was for the following groups: limb defects (79.37 x 10,000), central nervous system defects (49.39 x 10,000), vascular disruption defects (40.57 x 10,000). CONCLUSIONS: In the surveillance period in the institution it was found a prevalence of birth defects similar to that previously reported in the same institution. By grouping, the highest prevalence were for limb defects, defects of the central nervous system and vascular disruption defects. Birth defects associated with environmental factors, principally neural tube defects and defects by vascular disruption had higher prevalence compared with those reported previously.