Concepedia

Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst

Ruth Gershoni‐Baruch, I Machoul, Y Weiss, Susan I. Blazer

Journal of Medical Genetics · 1990 · 32 citations · 5 references

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Abstract

We present a male infant with a giant omphalocele, diaphragmatic hernia, hepatic cyst, bilateral radioulnar synostosis, absent left thumb, and triphalangeal right thumb.

References

5

The Genetics of Hand Malformations

Margretta R. Seashore · Europe PMC (PubMed Central) · 1979 · 710 citations

, , +11

Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndromes

Fahed Halal, Jürgen Herrmann, Philip D. Pallister et al. · American Journal of Medical Genetics · 1983 · 77 citations

, , +12

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

J. Bamforth, Claire O. Leonard, Bernard N. Chodirker et al. · American Journal of Medical Genetics · 1989 · 66 citations

, , +13

The Nager syndrome

Jacqueline T. Hecht, LaDonna Immken, Lileah F. Harris et al. · American Journal of Medical Genetics · 1987 · 40 citations

, , +14

Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case

R. A. Pfeiffer, H. Stoess, John M. Opitz · American Journal of Medical Genetics · 1983 · 28 citations

, , +15