A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.

Author:

Winter R M,Campbell S,Wigglesworth J S,Nevrkla E J

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference4 articles.

1. Thoracic-pelvic-phalangeal dystrophy;Langer, L.O.;Radiology,1968

2. Necropsy findings in neonatal asphyxiating thoracic dystrophy;Turkel, S.B.; Diehl, E.J.; Richmond, J.A.;J Med Genet,1985

3. Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period;Danks, D.M.; Haslam, R.; Mayne, V.;Arch Dis Child,1976

4. Thoracic-pelvic dysostosis a 'new' autosomal dominant form;Bankier, A.; Danks, D.M.;J Med Genet,1983

Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

2. Costovertebral dysplasia in a patient with partial trisomy 22;Experimental and Molecular Pathology;2006-04

3. Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation—A sib observation;American Journal of Medical Genetics;1997-06-13

4. A catalogue of multiple congenital anomaly syndromes;Multiple Congenital Anomalies;1991

5. A probably distinct autosomal recessive thoraco-limb dysplasia.;Journal of Medical Genetics;1988-09-01

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