✦ LIBER ✦

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report

✍ Scribed by Marta Romanengo; Paolo Tortori-Donati; Maja Di Rocco

Book ID: 110887674
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 866 KB
Volume: 52
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1997.tb02542.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

VACTERL with hydrocephalus: A further ca

VACTERL with hydrocephalus: A further case with probable autosomal recessive inheritance

✍ Corsello, Giovanni ;Giuffrè, Liborio 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 2 views

A distinct dysmorphic syndrome with spin

A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance

✍ J. Sánchez-Corona; D. García-Cruz; A. González-Angulo; M. C. Alvarez-Arratia; R. 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 902 KB

Odontoonychodysplasia with alopecia: A n

Odontoonychodysplasia with alopecia: A new pure ectodermal dysplasia with probable autosomal recessive inheritance

✍ Pinheiro, Marta ;Freire-Maia, Newton ;Gollop, Thomaz R. ;Opitz, John M. ;Reynold 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 367 KB 👁 1 views

Autosomal recessive intestinal lymphangi

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

✍ Hennekam, R. C. M. ;Geerdink, R. A. ;Hamel, B. C. J. ;Hennekam, F. A. M. ;Kraus, 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 700 KB

SHORT syndrome: A new case with probable

SHORT syndrome: A new case with probable autosomal dominant inheritance

✍ Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed

Autosomal recessive acro-fronto-facio-na

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: A third case report

✍ Myriam Chaabouni; Faouzi Maazoul; Amira Ben Hamida; Moncef Berhouma; Zahra Marra 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

## Abstract We report on a 22‐day‐old Tunisian boy born to consanguineous (first‐cousin) parents (F = 1/16). The patient presents wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, coloboma of the upper lids, proptosis, congenital glaucoma, broad nose, syndactyl