A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy.
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.
Maclean
K
K
Department of Clinical Genetics, The Childrens' Hospital at Westmead, Sydney, Australia.
Ambler
G
G
Flaherty
M
M
Kozlowski
K
K
Adès
L C
LC
D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000473:pathology*; D002675:Child, Preschool; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007018:Hypopituitarism / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D010413:Penis / Q000002:abnormalities; D012174:Retinitis Pigmentosa / Q000473:pathology*; D012611:Scrotum / Q000002:abnormalities
D019382:Human Growth Hormone