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A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy.
Clin Dysmorphol 2002; 11(4):255-60CD

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.

Authors+Show Affiliations

Department of Clinical Genetics, The Childrens' Hospital at Westmead, Sydney, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12401990

Citation

Maclean, K, et al. "A Variant Microcephalic Osteodysplastic Slender-bone Disorder With Growth Hormone Deficiency and a Pigmentary Retinopathy." Clinical Dysmorphology, vol. 11, no. 4, 2002, pp. 255-60.
Maclean K, Ambler G, Flaherty M, et al. A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. Clin Dysmorphol. 2002;11(4):255-60.
Maclean, K., Ambler, G., Flaherty, M., Kozlowski, K., & Adès, L. C. (2002). A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. Clinical Dysmorphology, 11(4), pp. 255-60.
Maclean K, et al. A Variant Microcephalic Osteodysplastic Slender-bone Disorder With Growth Hormone Deficiency and a Pigmentary Retinopathy. Clin Dysmorphol. 2002;11(4):255-60. PubMed PMID: 12401990.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy. AU - Maclean,K, AU - Ambler,G, AU - Flaherty,M, AU - Kozlowski,K, AU - Adès,L C, PY - 2002/10/29/pubmed PY - 2003/3/13/medline PY - 2002/10/29/entrez SP - 255 EP - 60 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 11 IS - 4 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/12401990/A_variant_microcephalic_osteodysplastic_slender_bone_disorder_with_growth_hormone_deficiency_and_a_pigmentary_retinopathy_ L2 - http://Insights.ovid.com/pubmed?pmid=12401990 DB - PRIME DP - Unbound Medicine ER -