๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Pierre Robin syndrome : Autosomal dominant inheritance with pleiotropic effect

โœ Scribed by S. S. Sidhu; R. N. Deshmukh


Book ID
112833229
Publisher
Springer-Verlag
Year
1989
Tongue
English
Weight
449 KB
Volume
56
Category
Article
ISSN
0019-5456

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


SHORT syndrome: A new case with probable
โœ Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 22 KB ๐Ÿ‘ 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

Brachmann-de Lange syndrome: Autosomal d
โœ McKenney, Robin R.; Elder, Frederick F.B.; Garcia, Jose; Northrup, Hope ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 436 KB ๐Ÿ‘ 2 views

W e report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the th