✦ LIBER ✦

Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome

✍ Scribed by Joss, S.K. ;Paterson, W. ;Donaldson, M.D.C. ;Tolmie, J.L.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 143 KB
Volume: 113
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10745

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

## 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

Schilbach–Rott/blepharofacioskeletal syn

Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient

✍ Daniel Rocha de Carvalho; Natalia Freitas Rossi; Silvana Schellini; Danilo Moret 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

## Abstract We report on a 4‐year‐old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach–Rott syndrome (SRS) are the same condit

Ectrodactyly, cleft lip/palate syndrome

✍ Rodini, Elaine S. O. ;Freitas, J. A. S. ;Richieri-Costa, A. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB 👁 2 views

Ectrodactyly, cleft lip/palate syndrome

✍ Fried, K. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB 👁 2 views

Cleft lip and palate in Aicardi syndrome

✍ McPherson, Elizabeth ;Jones, Susan M. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB 👁 2 views

## Abstract Cleft lip and palate were described previously in two patients with Aicardi syndrome; this report presents a third similarly affected child. Thus, facial clefts may be an occasional manifestation of Aicardi syndrome.

Cleft lip and palate in Aicardi syndrome

✍ Jones, Susan M. ;McPherson, Elspeth 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 2 views