Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico / Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case

Resumen: Introducción: Las hidrocefalias son condiciones complejas influenciadas por factores genéticos y ambientales. Excluyendo las hidrocefalias adquiridas por infección o tumores encefálicos, las hidrocefalias congénitas de causa genética pueden ocurrir de forma aislada (hidrocefalia aislada, pura o no sindromática) o como componente de un síndrome genético definido (hidrocefalia sindromática). Objetivo: Presentar una hidrocefalia congénita sindromática con un diagnóstico co nocido, y realizar una revisión de la literatura. Caso clínico: Preescolar con diagnóstico prenatal de hidrocefalia y romboencefalosinapsis, cariotipo y estudio de TORCH normales. Al nacer se confirmaron los diagnósticos prenatales y se excluyó malformación del desarrollo cortical cerebral. En la primera semana de vida se realizó derivación ventrículo peritoneal. En una reevaluación a la edad de 4 años, la ausencia de reflejos corneales y alopecia parietal bilateral asociado a romboencefalosinapsis reunieron los criterios diagnósticos definitivos de una displasia cerebelo-trigémino dermal (Síndrome de Gómez, López-Hernández (SGLH)). Conclusiones: El SGLH es un síndro me neurocutáneo infrecuente, posiblemente una condición esporádica que está subdiagnostica da. Con las nuevas tecnologías imageneológicas y genéticas pre y post natales podemos acceder a un diagnóstico de precisión de las hidrocefalias de origen genético, en el cual la alta sospecha de equipos de especialistas clínicos es esencial. Sin el diagnóstico preciso no podemos acceder a un pronóstico a largo plazo, prevención de morbilidad agregada y un consejo genético adecuado, que son requeridos en la pediatría actual.

Abstract: Introduction: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). Objective: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. Clinical case: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, perito neal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilate ral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). Conclusions: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.

Do you know this syndrome? Ascher´s syndrome: clinical findings of little known triad

Abstract: Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis.

Diagnosis of infant synostotic and nonsynostotic cranial deformities: a review for pediatricians / Diagnóstico das deformidades cranianas sinostóticas e não sinostóticas em bebês: uma revisão para pediatras

Abstract Objective: To review the current comprehensive care for nonsyndromic craniosynostosis and nonsynostotic cranial deformity and to offer an overall view of these craniofacial conditions. Data source: The review was conducted in the PubMed, SciELO, and LILACS databases without time or language restrictions. Relevant articles were selected for the review. Data synthesis: We included the anatomy and physiology of normal skull development of children, discussing nuances related to nomenclature, epidemiology, etiology, and treatment of the most common forms of nonsyndromic craniosynostosis. The clinical criteria for the differential diagnosis between positional deformities and nonsyndromic craniosynostosis were also discussed, giving to the pediatrician subsidies for a quick and safe clinical diagnosis. If positional deformity is accurately diagnosed, it can be treated successfully with behavior modification. Diagnostic doubts and craniosynostosis patients should be referred straightaway to a multidisciplinary craniofacial center. Conclusions: Pediatricians are in the forefront of the diagnosis of patients with cranial deformities. Thus, it is of paramount importance that they recognize subtle cranial deformities as it may be related to premature fusion of cranial sutures.

Resumo Objetivo: Revisar o atendimento integral atual de craniossinostose não sindrômica e deformidade craniana não sinostótica e oferecer uma visão global dessas condições craniofaciais. Fontes de dados: A revisão foi feita nas bases de dados PubMed, SciELO e Lilacs e sem restrições de tempo ou idioma. Artigos relevantes foram selecionados para a revisão. Síntese dos dados: Foram incluídas a anatomia e a fisiologia do desenvolvimento normal do crânio em crianças, discutidas nuances relacionadas à nomenclatura, epidemiologia, etiologia e ao tratamento das formas mais comuns de craniossinostose não sindrômica. Também foram discutidos os critérios clínicos para o diagnóstico diferencial entre deformidades posicionais e craniossinostose não sindrômica. Deram-se aos pediatras subsídios para um diagnóstico clínico rápido e seguro. Se deformidades posicionais forem diagnosticadas com precisão, elas podem ser tratadas com sucesso por meio da modificação do comportamento. Dúvidas de diagnóstico e pacientes portadores de craniossinostose devem ser encaminhados imediatamente a um centro multidisciplinar craniofacial. Conclusões: Os pediatras estão na vanguarda do diagnóstico de pacientes com deformidades cranianas. Assim, é de suma importância que reconheçam deformidades cranianas sutis, pois elas podem estar relacionadas à fusão prematura das suturas cranianas.

Opitz C syndrome: trigonocephaly, mental retardation and craniofacial dysmorphism

We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization [FISH technique] showed a balanced translocation between the chromosomes two and eleven: t[2:11] [q32.2/q24]

Cytogenetic diagnosis of Roberts SC phocomelia syndrome: first report from Kashmir

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature [sister] chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes

Roberts-sc phocomelia syndrome [pseudothalidomide syndrome]: a case report

A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest

Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea / Prenatal diagnosis of otopalatodigital syndrome type 2

El síndrome otopalatodigital tipo 2 (OPD2), es una rara entidad con herencia recesiva ligada al cromosoma X, letal, caracterizada por facies anormales con hipoplasia centrofacial, hipertelorismo ocular, paladar hendido, talla baja, huesos largos curvos, sindactilia en pies y manos y anomalías óseas. Usualmente originadas en mutaciones en el gen de la filamina A (FLNA). Se reporta un caso, con diagnóstico prenatal de osteocondrodisplasia que posteriormente por hallazgos al examen físico y radiológicos del recién nacido se clasifico como síndrome otopalatodigital tipo 2.

Otopalatodigital syndrome, type 2 (OPD2), is a rare entity with recessive heredity linked to the X chromosome, lethal, characterized by abnormal facies, with centro-facial hypoplasia, ocular hypertelorism, cleft palate, low height, curved long bones, syndactyly, and osseous anomalies on feet and hands. It has been recently shown that patients with OPD2 with mutations in the filamin A gene (FLNA), which is also found altered in allelic entities like the OPD1 syndrome, the Melnik-Needles syndrome and frontometaphyseal dysplasia. Herein, we report a case with prenatal osteochondrodysplasia diagnosis that after physical and radiological exam of the newborn was classified as otopalatodigital syndrome type 2.

Asymmetry of human skull base during growth / Asimetría de la base de cráneo durante el crecimiento

Knowledge about human skull asymmetry in normal dry specimens is useful as a parameter for medical and dentistry practice. Skull base was investigated with the objective to validate the method of indirect measurement with digital pictures and to evaluate the degree of asymmetry from human skull base in different ages. We analyzed 176 normal identified human skulls, divided by age in the following groups: Fetuses, newborn, children and adults. Measures were taken from a central point: pharyngeal tubercle and 4 lateral points: foramen ovale, foramen spinosum, carotid canal and stylomastoid foramen using digital biometry after a comparative validation with directed method performed with caliper. Results were presented as asymmetry indexes and data were expressed as percentage. The digital method presented validity in relation to the direct method with caliper. The skulls in all age groups presented asymmetry. The smallest asymmetry index was 2.6 percent and the largest 6.6 percent. In the literature, there are no patterns for defined values of asymmetry in normal skulls. The asymmetry of the foramina related to midline was verified in the whole sample and was considered as normal corresponding to an average asymmetry index of 4 percent. In this study we also observed that in most of the measures there was prevalence of the right side over the left side.

El conocimiento sobre asimetrías craneales a partir de especímenes secos es de gran utilidad en la determinación de parámetros relevantes para las prácticas médica y odontológica. Se estudió la base del cráneo con el objetivo de validar el método de mediciones indirectas con fotografías digitales y evaluar el grado de asimetría en diferentes edades. Se analizaron 176 cráneos humanos identificados, agrupándolos por edad en fetos, recién nacidos, niños y adultos. Las mediciones fueron realizadas a partir de un punto central: el tubérculo faríngeo y de cuatro puntos laterales: foramen oval, foramen espinoso, canal carotideo y foramen estilomastoideo, usando biometría digital, luego de una validación por criterio concurrente respecto de mediciones directas con caliper. Los resultados son presentados como índices de asimetría y los datos son expresados en porcentajes. El método digital evidencia validez concurrente en relación al método directo con caliper. Los cráneos en todos los grupos étareos presentaron asimetrías. El índice de asimetría menor correspondió a 2,6 por ciento, mientras que el mayor a 6,6 por ciento. En la literatura no se reportan parámetros para definir valores de asimetrías en cráneos normales. La asimetría de la foramina respecto de la línea mediana se verificó en toda la muestra y fue considerada como normal, correspondiendo a un índice de asimetría promedio del 4 por ciento. En este estudio se observó también que en la mayoría de las medidas hubo predominancia del lado derecho sobre el lado izquierdo.

Problemas de anestesia en niños con hendiduras faciales complejas. Reporte de un caso / Anesthesia problems in children with complex facial clefts. A case report

Las malformaciones congénitas conocidas como hendiduras faciales representan un reto complejo para el anestesiólogo debido a las anomalías estructurales asociadas al padecimiento y a las dificultades para el manejo adecuado de la vía aérea. Se describe el caso de una lactante de 3 meses de edad con hendidura facial amplia y compleja a la cual fue necesario realizar una tomografía axial computarizada (TAC) para descartar malformaciones adicionales en el sistema nervioso central. El procedimiento se efectuó con anestesia general inhalatoria (sevofluorane). Por la deformidad facial, no pudimos emplear una mascarilla facial pediátrica, y utilizamos en su lugar una mascarilla para adulto que cubría prácticamente toda la cara de la paciente. Con este procedimiento se pudo llevar a cabo exitosamente el acto anestésico.

Facial clefts can be challenging for the anesthesiologist due to the associated congenital anomalies and difficulties in the management of the airway. We describe the case of a three months old girl, with a wide and complex mid facial cleft. Because of this malformation, a computerized axial tomography (CAT) was required to discard malformation in the Central Nervous System (CNS). She was given general inhalation anesthesia (sevofluorane) through an adult’s mask that covered practically all her face because the facial deformity did not allow the use of a pediatric mask. Anesthesia was successful with this method.

As malformações congênitas conhecidas como fendas faciais reapresentam um desafio complexo para o anestesiologista em virtude das anomalias estruturais associadas ao padecimento e às dificuldades para o manejo adequado da via aérea. É descrito o caso de uma lactante de três meses de idade com fenda facial ampla e complexa que precisou ser submetida a uma tomografia axial computadorizada (TAC) para descartar malformações adicionais no sistema nervoso central. O procedimento foi feito com anestesia geral inalatória (sevofluorane). Como a deformidade facial impossibilitava usar uma máscara facial pediátrica, decidiu-se usar uma máscara para adulto que praticamente cobria todo o rosto da paciente. Com este procedimento foi possível realizar o ato anestésico de forma bem-sucedida.

Anomalías craneofaciales / Craniofacial abnormalities

Las malformaciones craneofaciales son algunas de las patologías más prevalentes en la edad pediátrica. Podemos distinguir dos grandes grupos: las producidas por un cierre precoz de las suturas del esqueleto craneofacial, las craneosinostosis y faciocraneosinostosis; y las que actualmente se pueden considerar neurocrestopatías, como los síndromes de primer y segundo arcos branquiales y las fisuras orofaciales como la fisura labiopalatina. Se describen las principales características de los síndromes más frecuentes y los tratamientos, desde los más empleados a los más innovadores, como las técnicas endoscópicas y las de distracción ósea.

Craniofacial abnormalities are some of the most prevalent malformations in children. We can distinguish two groups: those caused by an early closure of the sutures of the craniofacial skeleton, as craniosynostoses and faciocranioynostosis; and those that are considered neural crest anomalies, like the first and second brachial arch syndromes, and cleft lift and palate. The authors discuss the major characteristics of the most frequent syndromes, as well as treatment modalities, including the most popular and the most recent ones, like endoscopic and bone distraction techniques.

Progeria.

Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke. A 30-year-old male with clinical and radiologic features highly suggestive of HGPS is presented here with description of differential diagnosis, dental considerations and review of literature.

Acranea: a propósito de un caso / Acranea: a purpose of a case

La acranea es la anomalía fetal caracterizada por la ausencia de la bóveda craneana, acompañado de un completo tejido cerebral. Su causa es debida a una falla en la migración del mesenquima ectodernal o a una discrupción de las bandas amnióticas. La incidencia no es conocida, muy pocos casos han sido reportados en la literatura mundial. El diagnóstico prenatal se identifica por la ausencia de la bóveda craneana a través de la ultrasonografía. El pronóstico es fatal. Nosotros reportamos nuestra experiencia en un feto diagnosticado por ultrasonografía con acranea a las 12 semanas de edad gestacional.

Bartsocas-Papas syndrome.

We report three sibs born to a third degree consanguineous Indian family affected with Bartsocas Papas Syndrome. All the three pregnancies were complicated by severe oligohydramnios, which is not commonly seen with Bartsocas-Papas syndrome.

Estudo sobre alterações craniofaciais em crianças atópicas e/ou asmáticas, Hospital Universitário Cassiano Antônio Moraes, Vitória-ES, Brasil / Study about craniofacialalterations in asthmatic and/or allergic children, UniversityHospital Cassiano AntônioMoraes, Vitória- ES, Brazil

Objetivos: Este estudo avalia a relação entre o comprometimentorespiratório em crianças com idades de três a seis anos, atópicas e/ou asmáticas, eo seu efeito sobre as características faciais, oclusais e funções oronasofaringianas.Métodos: O estudo consistiu de 33 crianças de ambos os sexos compondo grupoexperimental, com história clínica de atopia e/ou asma e respiradoras bucaiscomprovada por laudo do médico alergista, atendidas na Clínica Pediátrica. Paracompor o grupo controle, 49 crianças de ambos os sexos, com ausência de respiraçãobucal, sem atopia e/ou asma e ausência de tratamento ortodôntico, foramaleatoriamente selecionadas na Clínica de Odontopediatria. Resultados: A probabilidadede desenvolver alterações oclusais e oronasofaringianas, conseqüentesde atopia e/ou asma, foi avaliada pelo teste de Odds Ratio (OR), mostrandosignificância para as variáveis: sobressaliência aumentada, OR= 16,48 (IC=95%:14,72 ? 61,21); mordida aberta OR= 52,50 (IC=95%: 6,05-1177,8); obstruçãonasal OR = 27,43 (IC=95%: 3,30-601,4); deglutição atípica OR= 35,37 (IC 95%:4,29-771,4); fonação atípica OR= 5,97 (IC= 95%: 1,79-20,81); e tipo facial longoOR= 4,61 (95%: 1,66-12,76). Conclusões: Os resultados encontrados evidenciaramque a respiração bucal e a atopia e/ou asma estão positivamente associadascom o risco de desenvolvimento de alterações faciais, oclusais e oronasofaringianase que a intervenção multidisciplinar se torna necessária.

Objectives: The purpose of the study isto evaluate the relationship between compromisedbreathing in asthmatic and/or atopic mouth breatherchildren ranging in age from 3 to 6 years, and the itseffects that condition has on occlusal and facial characteristicsand on oronasalpharyngeal functions relatedto speech and swallowing patterns. Methods: Theexperimental group consisted of thirty-three childrenof both sex, coming to Pediatric Clinic for asthmaand/or atopy treatment and mouth breathing patternconfirmed by exams. Forty-nine children of bothsex, free from respiratory diseases, nose breathers ,and with no history of orthodontic treatment wererandomly selected at Pediatric Dentistry Clinic to bethe control group. Results: The probability of developingocclusal and oronasalpharyngeal alterations,as a consequence of asthma and/or atopy, analyzedthrough odds ratio values (OR), showed the followingsignificant variables: increased overjet, OR = 16.48(CI = 95%: 14.72-61.21); open bite, OR =52.50 (CI = 95%: 6.05-1177.8); nasal airwayobstruction OR = 27.43 (CI= 95%: 3.30-601.4);atypical swallowing pattern, OR = 35.37 (CI =95%: 4.29-771.4); atypical speech pattern, OR =5.97 (CI = 95%: 1.79-20.81); and long facial typeOR = 4.61 (CI = 95%: 1.66-12.76). Conclusions:The results of this research show evidencethat mouth breathing and asthma and/or atopy arepositively associated with the risk of facial, occlusaland oronasalpharyngeal development alterations andthat multidisciplinary intervention become necessary.

Fraser-cryptophthalmos syndrome with colonic atresia.

Fraser cryptophthalmos syndrome is a severe genetic disorder comprising of cryptophthalmos, syndactyly and genitourinary abnormalities. Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum.

Otocefalia: presentación de dos casos / Otocepsahly: report of two cases

Presentar dos casos de otocefalia. Caso 1. Paciente de 32 años de edad, II gesta, I para, con embarazo de 25 semanas, en control en el servicio de alto riesgo obstétrico del Instituto Autónomo Hospital Universitario de Los Andes por antecedente de embarazo con producto malformado. En estudio ecográfico se encontró feto con microcefalia. Se atendió parto por vía vaginal a las 29 semanas, y se obtuvo recién nacido vivo, sexo masculino, con microcefalia y malformaciones en la región facial tipo otocefalia y aprosopia, el cual muere a los pocos minutos de nacido. Caso 2. Paciente de 39 años, VI gesta, IV paras, I aborto, con embarazo de 27 semanas por fecha de última menstruación. Le fue practicada hemilaringectomía durante la tercera semana de embarazo, bajo anestesia endovenosa. A las 27 semanas, se practica ecosonograma y se encontró polihidramnios, meroanencefalia y quistes aracnoideos. Después de parto a las 28 semanas, se obtiene recién nacido vivo, de sexo femenino, con microcefalia y malformaciones faciales dadas por otocefalia y aprosopia, y muere a los dos minutos de nacida. A ambos productos se les realizó estudio morfológico en la Cátedra de Embriología de la Universidad de Los Andes.

To present two cases of otocephaly. Case 1: Patient of 32 years of age, gravida II, I delivery, with a 25 weeks pregnancy, in prenatal care at the service of high obstetrical risk of the "Instituto Autonomo Hospital Universitario de Los Andes", for history of previous pregnancy with a malformed product. The ultrasound study reported fetal microcephaly. She had a premature delivery at 29 weeks, obtaining an alive male new born, with microcephaly and facial malformations like otocephaly and aprosopia, that dies after few minutes of been born. Case 2. Patient of 39 years, gravida VI, V deliveries, I abortion, with pregnancy of 27 weeks for last menstrual period. She had a hemilaringectomy during the third week of pregnancy, under endovenous anesthesia. The ultrasound study at 27 weeks revealed polihydramnios, meroanencephaly and arachnoid cysts. After premature labor at 28 weeks, a female alive new born, with microcephaly and face malformations given by otocefalia and aprosopia was obtained, and dies two minutes after been born. Morphological study was performed to both products in Embriology Unit of The University of Los Andes.

Lenz microphthalmic syndrome in an Indian patient.

A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.

Secuencia de Potter con hipoplasia pulmonar y malformaciones craneofaciales: reporte de un caso / Potter`s Sequences with pulmonary hypoplasia and craniofacials malformation: report of a case

Paciente femenina de 15 horas, con control prenatal inadecuado, producto de un parto pretérmino secundario a sufrimiento fetal agudo por posición distónica y oligoaminios absoluto que cursa con insuficiencia respiratoria severa y Secuencia de Potter que por la gravedad de la patología fallece.