A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. Issue 4 (23rd January 2014)

• Record Type: Journal Article
• Authors: Girisha, Katta M.; Abdollahpour, Hengameh; Shah, Hitesh; Bhavani, Gandham SriLakshmi; Graham, John M.; Boggula, Vijay Raju; Phadke, Shubha R.; Kutsche, Kerstin
• Is Part Of: American journal of medical genetics. Volume 164:Issue 4(2014.)
• Page Start: 1035
• Page End: 1040
• Publication Date: 2014-01-23
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36381
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36381-sec-0001" sec-type="section"> <p>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 <italic>FLNA</italic> and <italic>FLNB</italic> 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. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>