[Focal dermal hypoplasia: description of three cases].
BACKGROUND
Focal dermal hypoplasia syndrome is mainly defined by the association of abnormalities of extremities, atrophy and linear hyperpigmentation of the skin, localized deposits of superficial fat, anomalies of the eyes and of the nails. Neonates are often small for their age.


METHODS
Three sporadic cases are reported. Mental delay and omphalocele were observed in the first case. The neurological development was subnormal in the second and an unusual monodactyly was seen in the third.


CONCLUSIONS
Most cases are sporadic, but in family cases, an X-linked dominant factor is likely. When a first affected offspring is observed, skin examination and X-ray should be carried out in parents to evaluate the risk of recurrence in their children. As the gene site has not yet been determined, antenatal diagnosis should be suspected on echography when fetal growth delay is associated to distal limb and/or ocular anomalies.
Service de médecine néonatale, hôpital Charles-Nicolle, CHU, Rouen, France.
V
V
Barre
V
V
Drouin-Garraud
S
S
Marret
P
P
Young
B
B
Bachy
J
J
Lechevallier
C
C
Fessard
D002648:Child; D005260:Female; D005489:Focal Dermal Hypoplasia; D006801:Humans; D007223:Infant
Le syndrome de Goltz: à propos de trois observations.