A Syndrome of Facial Dysmorphism, Cubital Pterygium, Short Distal Phalanges, Swan Neck Deformity of Fingers, and Scoliosis

Girisha, KM and Bhavani, Gandham SriLakshmi and Shah, Hitesh (2014) A Syndrome of Facial Dysmorphism, Cubital Pterygium, Short Distal Phalanges, Swan Neck Deformity of Fingers, and Scoliosis. American Journal Of Medical Genetics Part - A. pp. 1-6.

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Abstract

We report on an adolescent girl with sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broad finger tips, short distal phalanx of fingers, swan neck deformity of fingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, and unilateral clubfoot at birth. The combination of these features represents a novel phenotype. We sequenced the protein-coding regions of the FLNA and FLNB genes and did not observe any pathogenic sequence variation. Chromosomal microarray revealed a de novo copy number variation of uncertain clinical significance on 7p22.3.

Item Type: Article
Uncontrolled Keywords: Webbing at elbows; broad finger tips; short distal phalanges of fingers; swan neck deformity of fingers; short fibula, short metatarsal; overhanging nasal tip; filamin; 7p22.3 duplication; FAM20C.
Subjects: Medicine > KMC Manipal > Orthopaedics
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 28 Jan 2014 09:33
Last Modified: 02 Jul 2014 04:27
URI: http://eprints.manipal.edu/id/eprint/138555

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