✦ LIBER ✦

Ectomorphic habitus, severe mental retardation, and characteristic face: A new MCA/MR syndrome?

✍ Scribed by Fryns, J. P. ;Smeets, E. ;Thiry, P. ;Geutjens, J. ;Vinken, L. ;Van den Berghe, H.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 262 KB
Volume: 49
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320490117

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New MCA/MR syndrome with generalized hyp

New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face

✍ Okamoto, Nobuhiko; Matsumoto, Fumi; Shimada, Kenji; Satomura, Kenichi 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB 👁 1 views

We have observed a newly recognized syndrome in two unrelated Japanese patients. Manifestations include severe mental retardation, growth failure, generalized floppiness, congenital hydronephrosis, cardiac anomalies, cleft palate, and characteristic face. To date, caused genesis is unknown.

Mental retardation, unusual face, and in

Mental retardation, unusual face, and intrauterine growth retardation: A new recessive syndrome?

✍ Pitt, D. B. ;Rogers, J. G. ;Danks, D. M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 444 KB 👁 2 views

New multiple congenital anomalies: Menta

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

✍ Borochowitz, Zvi ;Pavone, Lorenzo ;Mazor, Galia ;Rizzo, Renata ;Dar, Hanna 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 933 KB

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, ch

Microcephaly, colobomatous microphthalmi

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

✍ M�garban�, Andr�; Haddad-Zebouni, Soha; Nabbout, Rima; Khoury, Antoine H.; Trabo 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

We report on 2 male cousins with minor facial anomalies, microcephaly, colobomatous microphthalmia, psychomotor retardation, short stature, and skeletal malformations. The children belong to a highly inbred family. We conclude that these patients have a previously undescribed autosomal-recessive syn

Severe mental retardation, short stature

Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: Previously undescribed MCA/MR syndrome

✍ M�garban�, Andr� ;Cormier-Daire, Val�rie 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB 👁 2 views

Fallot complex, severe mental, and growt

Fallot complex, severe mental, and growth retardation: A new autosomal recessive syndrome?

✍ Bindewald, Bettina ;Ulmer, Herbert ;Müller, Ulrich 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB 👁 2 views