Asphyxiating thoracic dystrophy with facial dysmorphism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1007/BF02763060.pdf
Reference10 articles.
1. Holder SE, Winter RM, Syndrome of the mouth. Oto-palatodigital syndrome type II.J Med Genet 1993; 30: 310–313.
2. Savarirayan R, Cormier-Daire V, Unger Set al. Oto-palatodigital syndrome, type II: report of three cases with further delineation of the chondro osseous morphology.Am J Med Genet 2000; 95:193–200.
3. Pries S, Kemperdick H, Majewski F. Oto-palato-digital syndrome type II in two unrelated boysClin Genet 45: 154–161.
4. Robertson S, Gunn T, Allen B, Chapman C, Becroft, D. Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in four generation kindred.Am J Med Genet 1997; 71: 341–347.
5. Verloes A, Lesenfants S, Barr Met al. Fronto-otopalatodigital dysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.Am J Med Genet 2000; 90: 407–422.
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1. Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes;Journal of Clinical Medicine;2022-03-10
2. Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound;Polish Journal of Radiology;2015
3. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy);American Journal of Medical Genetics Part A;2011-04-04
4. Jeune syndrome;Postgraduate Medical Journal;2008-10-01
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