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Cerebro‐costo‐mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission
Author(s) -
Morin Gilles,
Gekas Jean,
Naepels Philippe,
Gondry Jean,
Devauchelle Bernard,
Testelin Sylvie,
Sevestre Henri,
Thépôt François,
Mathieu Michèle
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.175
Subject(s) - medicine , fetus , prenatal diagnosis , cystic hygroma , ossification , osteochondrodysplasia , gestation , short stature , sibling , pediatrics , anatomy , pregnancy , genetics , biology , psychology , developmental psychology
Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro‐costo‐mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright © 2001 John Wiley & Sons, Ltd.