A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

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...

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Published in:American journal of medical genetics. Part A 2014-04, Vol.164A (4), p.1035-1040
Main Authors: Girisha, Katta M., Abdollahpour, Hengameh, Shah, Hitesh, Bhavani, Gandham SriLakshmi, Graham Jr, John M., Boggula, Vijay Raju, Phadke, Shubha R., Kutsche, Kerstin
Format: Article
Language:English
Subjects:
7p22.3 duplication
Abnormalities, Multiple - genetics
Adolescent
broad finger tips
Chromosomes, Human, Pair 7
Craniofacial Abnormalities
DNA Copy Number Variations
Facies
FAM20C
Female
filamin
Finger Phalanges - abnormalities
Humans
Muscular Atrophy - genetics
overhanging nasal tip
Pterygium - genetics
Scoliosis - genetics
short distal phalanges of fingers
short fibula
short fibula, short metatarsal
short metatarsal
swan neck deformity of fingers
webbing at elbows
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Summary: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. © 2014 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36381