✦ LIBER ✦

A new autosomal recessive disorder resembling Weaver syndrome

✍ Scribed by Teebi, Ahmad S. ;Sundareshan, T. S. ;Hammouri, Mousa Y. ;Al-Awadi, Sadika A. ;Al-Saleh, Qasem A.

Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 385 KB
Volume: 33
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320330413

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Newly recognized autosomal recessive acr

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

✍ Kennedy, Shelley J. ;Teebi, Ahmad S. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 1 views

Another case of the autosomal recessive

Another case of the autosomal recessive Weaver-like syndrome

✍ Slaney, Sarah F.; Winter, Robin M. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

## Recessive Weaver-Like Syndrome To the Editor: We recently saw a 2 1/2-year-old boy who was referred for assessment of developmental retardation and facial anomalies. The clinical findings resembled those of 2 sibs reported by Teebi et al. [1989], who suggested the diagnosis of a Weaver syndrome

Weaver syndrome: Autosomal dominant inhe

Weaver syndrome: Autosomal dominant inheritance of the disorder

✍ Proud, Virginia K.; Braddock, Stephen R.; Cook, Lola; Weaver, David D. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affe

Autosomal recessive disorder with muscle

Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome?

✍ Crisponi, Giangiorgio 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB 👁 1 views

This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females), from 12 different families in Southern Sardinia. This disorder is evident at birth and is characterized by marked muscular contraction of the facial muscles in response to t

Autosomal recessive multiple pterygium s

Autosomal recessive multiple pterygium syndrome: A new variant?

✍ Aslan, Yakup ;Erduran, Erol ;Kutlu, Necmettin 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 2 views

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercru

Oculocutaneous albinism, immunodeficienc

Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?

✍ Kotzot, Dieter ;Richter, Konrad ;Gierth-Fiebig, Kornelia 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 390 KB

We report on 2 related children, a boy and a girl, from a large Turkish clan. Their parents are both first cousins and have several common ancestors. Both children have tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombopenia, and micro