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A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.
Am J Med Genet A. 2006 Jul 15; 140(14):1491-6.AJ

Abstract

This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso-lumbar scoliosis, biconcave vertebral bodies of the thoraco-lumbar spine, and narrowed lumbar canal. In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads. The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo-skeletal syndrome is raised.

Authors+Show Affiliations

Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarbane@usj.edu.lbNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16770799

Citation

Mégarbané, André, et al. "A Newly Recognized Autosomal Recessive Syndrome With Short Stature and Oculo-skeletal Involvement." American Journal of Medical Genetics. Part A, vol. 140, no. 14, 2006, pp. 1491-6.
Mégarbané A, Ghanem I, Waked N, et al. A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. Am J Med Genet A. 2006;140(14):1491-6.
Mégarbané, A., Ghanem, I., Waked, N., & Dagher, F. (2006). A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. American Journal of Medical Genetics. Part A, 140(14), 1491-6.
Mégarbané A, et al. A Newly Recognized Autosomal Recessive Syndrome With Short Stature and Oculo-skeletal Involvement. Am J Med Genet A. 2006 Jul 15;140(14):1491-6. PubMed PMID: 16770799.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. AU - Mégarbané,André, AU - Ghanem,Ismat, AU - Waked,Naji, AU - Dagher,Fernand, PY - 2006/6/14/pubmed PY - 2006/9/29/medline PY - 2006/6/14/entrez SP - 1491 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 140 IS - 14 N2 - This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso-lumbar scoliosis, biconcave vertebral bodies of the thoraco-lumbar spine, and narrowed lumbar canal. In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads. The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo-skeletal syndrome is raised. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16770799/A_newly_recognized_autosomal_recessive_syndrome_with_short_stature_and_oculo_skeletal_involvement_ L2 - https://doi.org/10.1002/ajmg.a.31316 DB - PRIME DP - Unbound Medicine ER -