✦ LIBER ✦

A syndrome with multiple malformations, mental retardation, and ACTH deficiency

✍ Scribed by Kajantie, Eero ;Otonkoski, Timo ;Kivirikko, Sirpa ;Somer, Mirja

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 198 KB
Volume: 126A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20604

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new X-linked multiple congenital anoma

A new X-linked multiple congenital anomalies/ mental retardation syndrome

✍ Golabi, Mahin ;Ito, Melani ;Hall, Bryan D. ;Opitz, John M. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

RAPADILINO syndrome: A multiple malforma

RAPADILINO syndrome: A multiple malformation syndrome with radial and patellar aplasia

✍ Jam, Kathy; Fox, Michelle; Crandall, Barbara F. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 1 views

RAPADILINO is an acronym for a rarely described multimalformation syndrome with radial ray, absent or hypoplastic patellae, diarrhea which usually improves with age, skeletal abnormalities including segmental vertebral deformities and dislocations, and short stature (little size) with normal intelli

Trisomy 18/trisomy 13 mosaicism in an ad

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations

✍ Wilson, William G. ;Shires, Mary Ann ;Willson, Kathy A. ;Wyandt, Herman E. ;Harr 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 383 KB 👁 2 views

Characterization of a new X-linked menta

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

✍ Christèle du Souich; Athena Chou; Jingyi Yin; Tracey Oh; Tanya N. Nelson; Jane H 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB 👁 2 views

Guanidinoacetate methyltransferase defic

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

✍ H. Caldeira Araújo; W. Smit; N.M. Verhoeven; G.S. Salomons; S. Silva; R. Vasconc 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 1 views

Congenital hypoplastic anaemia in a pati

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

✍ 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