Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology-Reference-Cited by-同舟云学术

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Osteocraniostenosis–hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology

Published:2006-07-15 Issue:14 Volume:140A Page:1553-1563
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Elliott Alison M.,Wilcox William R.,Spear Gerald S.,Field Fiona M.,Steffensen Thora S.,Friedman Barbara D.,Rimoin David L.,Lachman Ralph S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

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

2. Radiological findings in Hallermann-Streiff syndrome: Report of five cases and a review of the literature

3. Hallermann-Streiff syndrome: A review

4. Skeletal dysplasias with gracile bones: Three new cases, including two offspring of a mother with a dwarfing condition

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

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1. Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2);Molecular Genetics & Genomic Medicine;2024-04

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

3. 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

4. The Molecular Genetics of Hypoparathyroidism;The Parathyroids;2015

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

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