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A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary
K Maclean1, G Ambler, M Flaherty
1Department of Clinical Genetics, The Childrens' Hospital at Westmead, Sydney, Australia.
Clinical Dysmorphology
|October 29, 2002
Abstract:
We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed osseous maturation, most closely resembling patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). Intrauterine growth retardation, a universal finding in the MOPD II, was absent in our patient.