Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

Abstract

We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.

• Authors: J A Hurst, R M Winter, M Baraitser
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 29 Issue 1 Pg. 107-15 (Jan 1988) ISSN: 0148-7299 [Print] United States
• PMID: 3344763 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Body Height
• Bone and Bones (abnormalities)
• Child, Preschool
• Craniosynostoses (diagnosis)
• Ear, External (abnormalities)
• Humans
• Infant, Newborn
• Male
• Syndrome