Amputation des quatre members

Les auteurs présentent les cas d'amputation des quatre membres réalisée chez trois patients différents. Ce sont des amputations réalisées pour chaque patient au cours d'une seule hospitalisation et en un seul temps opératoire. Deux patients pour gangrène sèche infectée et un pour amputation traumatique des quatre  membres. L'amputation d'urgence a été pratiquée en premier temps suivie de remodelage des moignons d'amputation en second temps. L'évolution de tous les patients a été bonne.Key words: Amputation, membres, appareillage, réinsertion social

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.

Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background. The clinical diagnosis of WHS was confirmed by array CGH, which revealed a terminal 4p16.3 deletion of 3.47 Mb, typically associated with a milder phenotype, contributing to the long survival of this child in a developing country

Meningocele in a congolese female with beckwith-wiedemann phenotype.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype