ABSTRACT
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
Subject(s)
Humans , Infant , Female , Focal Dermal Hypoplasia/complications , Focal Dermal Hypoplasia/genetics , Genetic Diseases, X-Linked/genetics , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/complications , PhenotypeSubject(s)
Ankle/abnormalities , Body Height , Bone and Bones/abnormalities , Child , Female , Focal Dermal Hypoplasia/complications , Growth Disorders/complications , Humans , Limb Deformities, Congenital/complications , Scoliosis/complications , Syndactyly/complications , Toes/abnormalities , Tooth Abnormalities/complicationsABSTRACT
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.