✦ LIBER ✦

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

✍ Scribed by Teebi, Ahmad S. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 623 KB
Volume: 28
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320280306

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autosomal dominant syndrome resembling C

Autosomal dominant syndrome resembling Coffin–Siris syndrome

✍ Maureen A. Flynn; Jeff M. Milunsky 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 165 KB 👁 2 views

## Abstract Coffin–Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Al

New, autosomal dominant form of ectoderm

New, autosomal dominant form of ectodermal dysplasia

✍ Tuffli, Gordon A. ;Laxova, Renata ;Opitz, John M. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 267 KB 👁 2 views

A family with an autosomal dominant meso

A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types

✍ Mihoko Nakamura; Yukihisa Matsuda; Masaru Higo; Gen Nishimura 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 104 KB 👁 2 views

Hypotrichosis with spondyloepimetaphysea

Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome

✍ Whyte, Michael P. ;Petersen, Deborah J. ;McAlister, William H. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 468 KB 👁 2 views

We describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.

A new autosomal recessive disorder resem

A new autosomal recessive disorder resembling Weaver syndrome

✍ Teebi, Ahmad S. ;Sundareshan, T. S. ;Hammouri, Mousa Y. ;Al-Awadi, Sadika A. ;Al 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB 👁 2 views

Autosomal dominant syndrome of mental re

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

✍ Vered Shkalim; Hagit N. Baris; Gavriel Gal; Ruth Gleiss; Shlomo Calderon; Marja 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 1 views

## Abstract We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high‐arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of gen