✦ LIBER ✦

New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies

✍ Scribed by Finucane, Brenda ;Kurtz, Michael B. ;Scott, Charles I.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 359 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430518

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

New X-linked mental retardation (XLMR) s

New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation

✍ Brooks, Susan Sklower ;Wisniewski, Krystyna ;Brown, W. Ted 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 401 KB 👁 2 views

Unusual facial appearance, microcephaly,

Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?

✍ Filippi, G. ;Fraser, F. Clarke ;Perus, Marilyn 📂 Article 📅 1985 🏛 John Wiley and Sons 🌐 English ⚖ 439 KB 👁 2 views

Ichthyosis-characteristic appearance-men

Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities

✍ Devriendt, Koenraad; van den Oord, Joost; De Vos, Rita; Van den Berghe, Herman; 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 2 views

In this report, we describe a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis, born to consanguineous Turkish parents. The histological finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells is unique, and hither

Skeletal dysplasia syndrome with progero

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz-Majewski syndrome

✍ Chrzanowska, K. H. ;Fryns, J. P. ;Krajewska-Walasek, M. ;Van den Berghe, H. ;Wis 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 2 views

“New” ectodermal dysplasia syndrome with

“New” ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet

✍ Wilson, William G. ;Greer, Kenneth E. ;Martof, Andrew B. ;McIlhenny, Joan ;Hatte 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 364 KB 👁 2 views

New syndrome with generalized lipodystro

New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?

✍ Daniele De Brasi; Nicola Brunetti-Pierri; Pasqua Di Micco; Generoso Andria; Gian 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 2 views