Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome?-Reference-Cited by-同舟云学术

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: Milder variant of osteocraniostenosis or new syndrome?

Published:2005 Issue:2 Volume:137A Page:199-203
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Verloes Alain,Garel Catherine,Robertson Stephen,Merrer Martine Le,Baumann Clarisse

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference10 articles.

1. Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype

2. Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs

3. Hallermann-Streiff syndrome and osteocraniostenosis

4. Yunis-Varon syndrome with severe osteodysplasty.

5. . 2000. Radiological electronic atlas of malformation syndromes. Oxford: Oxford Electronic Publishing.

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1. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features;Genes;2022-01-28

2. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull;American Journal of Medical Genetics Part A;2021-03-22

3. Hypoparathyroidism, Dwarfism, Medullary Stenosis of Long Bones, and Eye Abnormalities (Kenny-Caffey Syndrome) and Hypoparathyroidism, Retardation, and Dysmorphism (Sanjad-Sakati) Syndrome;Hypoparathyroidism;2015

4. Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology;American Journal of Medical Genetics Part A;2006-07-15