𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.

✦ Synopsis


~~

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. @


📜 SIMILAR VOLUMES


Congenital hypoplastic anaemia in a pati
✍ Mori, Pier Giorgio; Priolo, Manuela; Lerone, Margherita; Pasino, Mirella; Caroli 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

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

Multiple congenital anomalies/mental ret
✍ Steinbach, P. ;Wolf, M. ;Schmidt, H. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB 👁 2 views

## 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