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Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
Pediatr Dermatol. 2008 May-Jun; 25(3):401-2.PD

Abstract

We present an 18-month-old Pakistani girl who had short stature, craniofacial dysmorphism, and multiple café-au-lait spots. After consultation with the geneticists, microcephalic osteodysplastic primordial dwarfism type II was diagnosed (MIM210720). The presence of consanguinity in reported families is suggestive of autosomal recessive inheritance.

Authors+Show Affiliations

Department of Dermatology, Barts and the London NHS Trust, London, UK. naomi.webber@doctors.org.ukNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18577061

Citation

Webber, Naomi, et al. "Cutaneous Features Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II." Pediatric Dermatology, vol. 25, no. 3, 2008, pp. 401-2.
Webber N, O'Toole EA, Paige DG, et al. Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. Pediatr Dermatol. 2008;25(3):401-2.
Webber, N., O'Toole, E. A., Paige, D. G., & Rosser, E. (2008). Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. Pediatric Dermatology, 25(3), 401-2. https://doi.org/10.1111/j.1525-1470.2008.00698.x
Webber N, et al. Cutaneous Features Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II. Pediatr Dermatol. 2008 May-Jun;25(3):401-2. PubMed PMID: 18577061.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. AU - Webber,Naomi, AU - O'Toole,Edel A, AU - Paige,David G, AU - Rosser,Elisabeth, PY - 2008/6/26/pubmed PY - 2008/8/30/medline PY - 2008/6/26/entrez SP - 401 EP - 2 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 25 IS - 3 N2 - We present an 18-month-old Pakistani girl who had short stature, craniofacial dysmorphism, and multiple café-au-lait spots. After consultation with the geneticists, microcephalic osteodysplastic primordial dwarfism type II was diagnosed (MIM210720). The presence of consanguinity in reported families is suggestive of autosomal recessive inheritance. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/18577061/Cutaneous_features_associated_with_microcephalic_osteodysplastic_primordial_dwarfism_type_II_ L2 - https://doi.org/10.1111/j.1525-1470.2008.00698.x DB - PRIME DP - Unbound Medicine ER -