Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II.

Published on Jun 1, 1993in Journal of Human Genetics
· DOI :10.1007/bf01883712
Yoshitsugu Sugio10
Estimated H-index: 10
(Yamaguchi University),
Masato Tsukahara25
Estimated H-index: 25
(Yamaguchi University),
Tadashi Kajii33
Estimated H-index: 33
(Yamaguchi University)
A male infant with “classical” Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested.
Cited By23
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