New syndrome: Renal dysplasia, mesomelia, and radiohumoral fusion

C. E. Ulbright, M. E. Hodes, T. M. Ulbright

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The syndrome of mesomelic dwarsfism involving hypoplasia of the ulna, fibula, and mandible does not include renal abnormalities. This case also lacks the thickness and bowing of the radii and tibiae seen in that syndrome and lacks the ocular involvement associated with most syndromes involving renal dysplasia. Some of the anomalies in this case (renal malformation, mesomelic brachymelia, and talipes) are also part of the Schinzel-Giedion syndrome, but we did not find the cardiac, facial, rib, or hand anomalies in that disorder. Also, the Schinzel-Giedion syndrome does not include the absent ulnae and fibulae seen here. This case represents an instance of radioulnar hypoplasia with other defects, but does not match the case described by Gollop and Coates [1983]. That case included bifid humerus and hand malformations and lacked renal involvement.

Original languageEnglish (US)
Pages (from-to)667-668
Number of pages2
JournalAmerican journal of medical genetics
Volume17
Issue number3
DOIs
StatePublished - Jan 1 1984

Fingerprint

Kidney
Hand
Ulna
Fibula
Humerus
Ribs
Tibia
Mandible
Schinzel-Giedion syndrome
Talipes
Mesomelic dwarfism Reinhardt Pfeiffer type

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

New syndrome : Renal dysplasia, mesomelia, and radiohumoral fusion. / Ulbright, C. E.; Hodes, M. E.; Ulbright, T. M.

In: American journal of medical genetics, Vol. 17, No. 3, 01.01.1984, p. 667-668.

Research output: Contribution to journalArticle

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