✦ LIBER ✦

New report of a familial case of Moebius syndrome presenting skeletal findings

✍ Scribed by Carla Graziadio; Marina B. Lorenzen; Rafael F.M. Rosa; Louise L.C. Pinto; Paulo R.G. Zen; Giovanni M. Travi; Fabiana Valiatti; Giorgio A. Paskulin

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 112 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33548

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Say syndrome: Report of a familial case

✍ Pagnan, Nina Am�lia Brancia; Ribeiro, Enilze Maria de Souza Fonseca; Poerner, Fa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a

Ganglioneuroma presenting with different

Ganglioneuroma presenting with differentiated skeletal metastases. Report of a case

✍ James H. Garvin Jr; Ernest E. Lack; William Berenberg; Christopher N. Frantz 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 394 KB 👁 1 views

The authors report the case of a child with retroperitoneal ganglioneuroma and cytodifferentiated skeletal metastases. The primary tumor was surgically resected, and the child is alive and well 2 years later without additional therapy. This rarely documented phenomenon can be explained by spontaneou

Barber-Say syndrome: Report of a new cas

Barber-Say syndrome: Report of a new case

✍ Mazzanti, L.; Bergamaschi, R.; Neri, I.; Perri, A.; Patrizi, A.; Cacciari, E.; F 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS). BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations

A new case of Grange syndrome without ca

A new case of Grange syndrome without cardiac findings

✍ Robert Wallerstein; Ann Marie Augustyn; Donna Wallerstein; Leslie Elton; Beatriz 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB 👁 2 views

Aicardi syndrome: prenatal sonographic f

Aicardi syndrome: prenatal sonographic findings. A report of two cases

✍ Bryann Bromley; Kalpathy S. Krishnamoorthy; Beryl R. Benacerraf 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB 👁 2 views

The prenatal sonographic ®ndings in two children with

Feingold syndrome: Report of a new famil

Feingold syndrome: Report of a new family and review

✍ Courtens, W.; Levi, S.; Verbelen, F.; Verloes, A.; Vamos, E. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 3 views

Feingold syndrome (or oculodigitoesophagoduodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome) is a dominantly inherited combination of hand and foot abnormalities, microcephaly, esophageal/duodenal atresia, short palpebral fissures and learning disabilities, firs