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Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II.
Jpn J Hum Genet 1993; 38(2):209-17JJ

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8358044

Citation

Sugio, Y, et al. "Two Japanese Cases With Microcephalic Primordial Dwarfism: Classical Seckel Syndrome and Osteodysplastic Primordial Dwarfism Type II." The Japanese Journal of Human Genetics, vol. 38, no. 2, 1993, pp. 209-17.
Sugio Y, Tsukahara M, Kajii T. Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Genet. 1993;38(2):209-17.
Sugio, Y., Tsukahara, M., & Kajii, T. (1993). Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. The Japanese Journal of Human Genetics, 38(2), pp. 209-17.
Sugio Y, Tsukahara M, Kajii T. Two Japanese Cases With Microcephalic Primordial Dwarfism: Classical Seckel Syndrome and Osteodysplastic Primordial Dwarfism Type II. Jpn J Hum Genet. 1993;38(2):209-17. PubMed PMID: 8358044.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. AU - Sugio,Y, AU - Tsukahara,M, AU - Kajii,T, PY - 1993/6/1/pubmed PY - 1993/6/1/medline PY - 1993/6/1/entrez SP - 209 EP - 17 JF - The Japanese journal of human genetics JO - Jpn. J. Hum. Genet. VL - 38 IS - 2 N2 - 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. SN - 0916-8478 UR - https://www.unboundmedicine.com/medline/citation/8358044/Two_Japanese_cases_with_microcephalic_primordial_dwarfism:_classical_Seckel_syndrome_and_osteodysplastic_primordial_dwarfism_type_II_ L2 - http://dx.doi.org/10.1007/BF01883712 DB - PRIME DP - Unbound Medicine ER -