[Chondrodysplasia punctata and maternal alcohol intoxication. Apropos of 7 cases]. / Chondrodysplasie ponctuée et intoxication alcoolique maternelle. A propos de 7 observations.

The authors report 7 cases of chondrodysplasia punctata in whom maternal alcohol intoxication was found. Most often, it consisted of chronic and confirmed alcoholism, except for the last case, in which an acute intoxication had occurred at about the 4th or 5th week of pregnancy. Clinically, the appearance of the children was evocative of fetal alcohol syndrome, except in the last case when, in contrast, the facial dysmorphy was very typical of chondrodysplasia punctata. The skeletal anomalies preferentially involve the lower limbs, sometimes the sacrum, and in one single case, the dorsal spine. Upper limbs are always spared. The maternal hepatic lesions may be responsible for the skeletal impairment, due to their repercussion on the metabolism of vitamin K. This skeletal impairment would then be close to that induced by treatments with warfarin during pregnancy. Whatever, it is absolutely necessary to X-ray the lower limbs in cases with fetal alcohol syndrome, in order to not overlook associated bone lesions.

[Fronto-nasal dysplasia (apropos of 4 cases)]. / La dysplasie fronto-nasale (à propos de quatre observations).

Four cases of frontonasal dysplasia are reported in two boys and two girls. Clinical diagnosis was made at 16 months in one case and sooner in 3 cases (1 month-3 1/2 months) in presence of following features: severe hypertelorism (4/4), paramedian lip and palate cleft (3/4), nose root broadering (4/4), bifid or cleft nose tip (3/4), window's peak (3/4) mediofrontal swelling (4/4), cranium bifidum occultum (2/4). Many abnormalities were associated: conduction deafness (1/4), goldenhar syndrome (1/4), GH deficiency (1/4), etc... In three cases when cerebral investigation was possible, it was pointed out: corpus callosum agenesis (3/3), hydrocephalus (3/3), Dandy-Walker cyst (2/3). Caryotype is normal in whole cases which are sporadic. Two children are dead. The two alive remaining have severe mental impairment.

[Brachydactyly]. / Les brachydactylies.

Survey (illustrated by personal cases) of the seven main types of brachydactyly as isolated defects. Nosologic discussion about other brachydactylies.

[Association of hereditary hydrocephalus and holoprosencephaly]. / Association d'une hydrocéphalie héréditaire et d'une holoprosencéphalie.

An infant with alobar holoprosencephaly and hydrocephalus is reported. The mechanism of hydrocephalus (aqueductal stenosis) and the mother's previous history (2 boys from a first marriage still-born with hydrocephalus) suggest a X-linked hydrocephalus. The association of a holoprosencephaly with this hereditary hydrocephalus is discussed.