Unusual complex of ventral midline anomalies: A multiple congenital anomalies/mental retardation syndrome
✍ Scribed by Bohring, Axel; Sonntag, Josef; Schröder, Heinz; Wiedemann, Hans-Rudolf
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 451 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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We report on an infant boy with facial anomalies, hypoplasia of corpus callosum, cerebral atrophy, cleft of lower sternum, absence of palpable medial abdominal muscles, omphalocele, hypospadias, and other anomalies. This combination of congenital anomalies seems not to have been described before. A clear distinction from other syndromes and associations with midline defects seems possible, and thus a specific entity may be postulated. @
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We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna
## Abstract A severely retarded male infant was found to have a previously undescribed multiple congenital anomalies/mental retardation (MCA/MR) syndrome including microdolichocephaly, prominence of metopic suture, coarse scalp hair, epicanthus, anteverted nostrils, micrognathia, posteriorly angula