✦ LIBER ✦

Trichorhinophalangeal syndrome type 2: Another syndromic form of hydrometrocolpos

✍ Scribed by Fryns, Jean-Pierre

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 10 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(1997)73:2<233::aid-ajmg23>3.0.co;2-u

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Letter to the Editor. Syndromic forms of

Letter to the Editor. Syndromic forms of hydrometrocolpos

✍ J.P. Fryns 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB 👁 2 views

## Syndromic forms of hydrometrocolpos In this journal; Chen et al. (1996) reported on a case of duplicated hydrometrocolpos with uterus didelphys, a septate vagina, lower vaginal atresia, a persistent urogenital sinus, left ear agenesis, a single umbilical artery, and an imperforate anus, but 'wit

Sporadic case of trichorhinophalangeal s

Sporadic case of trichorhinophalangeal syndrome type III in a European patient

✍ Vilain, Catheline; Sznajer, Yves; Rypens, Fran�oise; D�sir, Daniel; Abramowicz, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

including sparse hair, a "pearshaped" nose, osteodysplasia with coneshaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984

Is SHORT syndrome another phenotypic var

Is SHORT syndrome another phenotypic variation of PITX2?

✍ Nadide Nilüfer Karadeniz; Inci Kocak-Midillioglu; Derya Erdogan; Isık Bökesoy 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

## Abstract Even though responsible genetic loci and mode of inheritance for the Rieger syndrome have been well established, the mode of inheritance and the genetic basis for SHORT syndrome are still uncertain. The purpose of this paper is to document a familial translocation of t(1;4)(q31.2;q25),

Craniosynostosis: Another feature of the

Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

✍ Donna M. McDonald-McGinn; Karen W. Gripp; Richard E. Kirschner; Melissa K. Maise 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB

MODY type 2 in Greig cephalopolysyndacty

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

✍ Amnon Zung; Erwin Petek; Bruria Ben-Zeev; Thomas Schwarzbraun; Sagi Josefsberg B 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB

Pfeiffer syndrome type 2: Further deline

Pfeiffer syndrome type 2: Further delineation and review of the literature

✍ Plomp, Astrid S.; Hamel, Ben C.J.; Cobben, Jan M.; Verloes, Alain; Offermans, Jo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients wit