✦ LIBER ✦

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome

✍ Scribed by Anwar Baban; Luca Moresco; Maria Teresa Divizia; Andrea Rossi; Roberto Ravazzolo; Margherita Lerone; Teresa De Toni

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 272 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32111

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Growth hormone deficiency in Costello sy

Growth hormone deficiency in Costello syndrome

✍ Stein, Robert I. ;Legault, Laurent ;Daneman, Denis ;Weksberg, Rosanna ;Hamilton, 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

Hypoplasia of the corpus callosum and gr

Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome

✍ Haeusler, Gabriele ;Frisch, H. ;Guchev, Z. ;Hadziselimovic, F. ;Neuhold, A. ;Vor 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 361 KB 👁 1 views

A 3-year-old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Derrnatoglyphic pattern was different from previous reports. At histologic

Growth hormone deficiency associated in

Growth hormone deficiency associated in the 18q deletion syndrome

✍ Ghidoni, Patricia Davis; Hale, Daniel E.; Cody, Jannine D.; Gay, Charles T.; Tho 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 183 KB 👁 3 views

The 18q؊ syndrome is one of the commonest deletion syndromes. Clinical characteristics are variable but may include: hypotonia, tapered digits, "carp-like" mouth, mental retardation, and hearing impairment. Growth failure (GF; both weight and height <3%) was reported in 80% of affected individuals.

Short stature in a patient with Klinefel

Short stature in a patient with Klinefelter syndrome and growth hormone deficiency

✍ Rossodivita, A. ;Colabucci, F. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB 👁 1 views

Growth hormone deficiency (GHD): A new a

Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS)

✍ Lee, Kuk-Wha ;Lee, Phillip D. K. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 107 KB 👁 2 views

Partial growth hormone deficiency and ch

Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

✍ Stefano Stagi; Giuseppe Bindi; Fiorella Galluzzi; Elisabetta Lapi; Roberto Salti 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB

## Abstract The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormal