New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio‐cutaneous‐skeletal involvement
- 1 July 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (4) , 678-685
- https://doi.org/10.1002/ajmg.1320430405
Abstract
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.Keywords
This publication has 11 references indexed in Scilit:
- Cardio‐facio‐cutaneous (CFC) syndrome: Report of a new patientAmerican Journal of Medical Genetics, 1989
- A case of cardio‐facio‐cutaneous syndromeAmerican Journal of Medical Genetics, 1989
- Hypoglycemia of Infancy and ChildhoodPediatric Clinics of North America, 1987
- The CFC syndrome—report of the first two cases outside the United StatesAmerican Journal of Medical Genetics, 1987
- New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndromeAmerican Journal of Medical Genetics, 1986
- Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedemaAmerican Journal of Medical Genetics, 1986
- A Noonan-like short stature syndrome with sparse hair.Journal of Medical Genetics, 1986
- Noonan syndrome: A reviewAmerican Journal of Medical Genetics, 1985
- Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomaliesClinical Genetics, 1982
- Hyperinsulinemia and Hypoinsulinemia: Insulin Responses to Oral Carbohydrate Over a Wide Spectrum of Glucose ToleranceDiabetes, 1975