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Unusual acrofacial dysostosis with severe limb defects: a new syndrome.
Genet Couns. 2011; 22(3):249-53.GC

Abstract

The acrofacial dysostoses are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and retrognathia combined with variable limb malformations. We report the patient, a 5-day-old-boy with craniofacial dysmorphic features and upper and lower limb defects respectively.

Authors+Show Affiliations

Karaman A
Department of Medical Genetics, Erzurum Nenehatun Obstetrics and Gynecology Hospital, Erzurum, Turkey. alikaramandr@hotmail.com
Kahveci H
No affiliation info available

MeSH

Abnormalities, MultipleAdultFemaleHumansInfant, NewbornLimb Deformities, CongenitalMaleMandibulofacial DysostosisRadiographySyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22029165

Citation

Karaman, A, and H Kahveci. "Unusual Acrofacial Dysostosis With Severe Limb Defects: a New Syndrome." Genetic Counseling (Geneva, Switzerland), vol. 22, no. 3, 2011, pp. 249-53.
Karaman A, Kahveci H. Unusual acrofacial dysostosis with severe limb defects: a new syndrome. Genet Couns. 2011;22(3):249-53.
Karaman, A., & Kahveci, H. (2011). Unusual acrofacial dysostosis with severe limb defects: a new syndrome. Genetic Counseling (Geneva, Switzerland), 22(3), 249-53.
Karaman A, Kahveci H. Unusual Acrofacial Dysostosis With Severe Limb Defects: a New Syndrome. Genet Couns. 2011;22(3):249-53. PubMed PMID: 22029165.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Unusual acrofacial dysostosis with severe limb defects: a new syndrome. AU - Karaman,A, AU - Kahveci,H, PY - 2011/10/28/entrez PY - 2011/10/28/pubmed PY - 2011/12/13/medline SP - 249 EP - 53 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 22 IS - 3 N2 - The acrofacial dysostoses are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and retrognathia combined with variable limb malformations. We report the patient, a 5-day-old-boy with craniofacial dysmorphic features and upper and lower limb defects respectively. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/22029165/Unusual_acrofacial_dysostosis_with_severe_limb_defects:_a_new_syndrome_ L2 - http://www.diseaseinfosearch.org/result/148 DB - PRIME DP - Unbound Medicine ER -