𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Frontometaphyseal dysplasia—evidence for X-linked inheritance

✍ Scribed by Gorlin, Robert J. ;Winter, Robert B.

Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
193 KB
Volume
5
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Toriello-Carey syndrome: Evidence for X-
Toriello-Carey syndrome: Evidence for X-linked inheritance
✍ Czarnecki, Paula; Lacombe, Didier; Weiss, Lester 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 387 KB 👁 1 views

Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, Robin sequence, abnormal ears, cardiac anomalies, and hypotonia. We describe two patients with Toriello-Carey syndrome and call attention to an unbalanced sex ratio. The first patient,

Fronto-otopalatodigital osteodysplasia:
Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
✍ Verloes, Alain; Lesenfants, Sylviane; Barr, Mason; Grange, Dorothy K.; Journel, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 2 views

Otopalatodigital syndrome type 2 is an Xlinked disorder with minimal expression in carrier females and comprises typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes, brachydactyly, and impaired survival. Recently several other severe malformations were reported in