Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2011
[Focal dermal hypoplasia (Goltz syndrome) in the neonate: report of a case presenting with cleft lip and palate].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Nagalo K, Laberge J-M, Nguyen V-H, Laberge-Caouette L, Turgeon J
Аннотация
Focal dermal hypoplasia (Goltz syndrome) is a rare congenital dysplasia of the mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCNgene mapped on Xp11.23. The condition is characterized by cutaneous lesions distributed in linear areas associated with diverse congenital deformities. Given the rarely described neonatal features, we report a case of Goltz syndrome in a black female newborn. This is the first case known in Burkina Faso. The cutaneous, hair, and nail lesions usually observed were present, characterized by their preponderance on the left side of the body with exclusive ipsilateral skeletal abnormalities (cleft lip and palate, agenesis of the metatarsals and toes of the foot, syndactyly, lobster claw, and absence of a rib). The limits in the management and the negative social and cultural perception of the deformities in the context of a developing country did not favor the child's survival.