Abstract
The ulnar-mammary syndrome (MIM 181450) includes postaxial ray defects, abnormalities of growth, delayed sexual development, and mammary and apocrine gland hypoplasia. Brachydactyly type E (MIM 113300) presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature. We describe a three-generation family with variable expression of ulnar/fibular hypoplasia, brachydactyly, ulnar ray defects and short stature. The proband had ulnar hypoplasia with missing IV-Vth fingers, fibular hypoplasia on the right, bilateral club feet, growth retardation, a hypoplastic mid-face, an ASD and hemangiomas. She had normal mammary tissue and normal sweating. The mother had short stature, midfacial hypoplasia, a hypoplastic ulna and hypoplasia of the IVth metacarpal (brachydactyly) on the right without other associated malformations. The maternal grandfather had mild bilateral fibular hypoplasia and midphalangeal brachydactyly of the IV-Vth toes. His sister had mild short stature and shortening of the IVth metacarpal of the left hand. Two-point linkage analysis with microsatellite markers spanning the Ulnar-Mammary locus at 12q24.1 did not confirm linkage. The patients may have a previously undescribed syndrome.
Original language | English (US) |
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Pages (from-to) | 161-165 |
Number of pages | 5 |
Journal | Clinical Dysmorphology |
Volume | 12 |
Issue number | 3 |
DOIs | |
State | Published - Jul 2003 |
Keywords
- ASD
- Autosomal dominant
- Brachydactyly
- Oligodactyly
- Ulnar ray defect
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Anatomy
- Pathology and Forensic Medicine
- Genetics(clinical)