✦ LIBER ✦

Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?

✍ Scribed by Farag, Talaat I. ;Teebi, Ahmad S.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 260 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350414

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Teebi hypertelorism syndrome with Tetral

Teebi hypertelorism syndrome with Tetralogy of Fallot

✍ Nakagawa, Masao; Kondo, Masanori; Matsui, Akemi 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 3 views

A 34-month-old boy presented with clinical manifestations of Teebi hypertelorism syndrome including prominent forehead with frontal bossing, hypertelorism, exophthalmos due to shallow orbits, a short and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hern

Diaphragmatic hernia-exomphalos-hypertel

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

✍ Gripp, Karen W.; Donnai, Dian; Clericuzio, Carol L.; McDonald-McGinn, Donna M.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB 👁 3 views

We describe a male patient with wide anterior fontanel and metopic suture, hypertelorism, down slanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of abdominal organs causing pulmonary hypoplasia and death. Autopsy also showed int

Two new cases of Cumming syndrome confir

Two new cases of Cumming syndrome confirming autosomal recessive inheritance

✍ P�rez del R�o, M.J.; Fern�ndez-Toral, J.; Madrigal, B.; Gonz�lez-Gonz�lez, M.; A 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 3 views

to that first described by Cumming et al. [

Gershoni-Baruch syndrome: Report of a ne

Gershoni-Baruch syndrome: Report of a new family confirming autosomal recessive inheritance

✍ Franceschini, P. ;Guala, A. ;Licata, D. ;Botta, G. ;Flora, F. ;Angeli, G. ;Di Ca 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB 👁 2 views

An autosomal dominant syndrome of charac

An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of fallot

✍ Jones, Marilyn C. ;Waldman, J. Deane ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 469 KB 👁 3 views

Further family with possible autosomal r

Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome

✍ Tekin, Mustafa; Bodurtha, Joann; Ciftci, Ergin; Arsan, Saadet 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 3 views