RESUMEN
We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic
Asunto(s)
Humanos , Lactante , Femenino , Hipoplasia Dérmica Focal/complicaciones , Hipoplasia Dérmica Focal/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Deformidades Congénitas de las Extremidades/diagnóstico por imagen , Deformidades Congénitas de las Extremidades/complicaciones , FenotipoAsunto(s)
Tobillo/anomalías , Estatura , Huesos/anomalías , Niño , Femenino , Hipoplasia Dérmica Focal/complicaciones , Trastornos del Crecimiento/complicaciones , Humanos , Deformidades Congénitas de las Extremidades/complicaciones , Escoliosis/complicaciones , Sindactilia/complicaciones , Dedos del Pie/anomalías , Anomalías Dentarias/complicacionesRESUMEN
We report a term, small for gestational age neonate having full spectrum of VACTERL association. In addition, the neonate also had triad of signs and symptoms associated with prune belly syndrome. The concurrence of these two syndromes could lie in their common etiology of defect in mesodermal differentiation. Such a combination is extremely rare and is generally incompatible with life.