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New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement

✍ Scribed by Borochowitz, Zvi ;Pavone, Lorenzo ;Mazor, Galia ;Rizzo, Renata ;Dar, Hanna

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 933 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430405

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✦ Synopsis

Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested. o 1992 Wiley-Liss, Inc.

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