A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
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A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. / Girisha, Katta M; Abdollahpour, Hengameh; Shah, Hitesh; Bhavani, Gandham Srilakshmi; Graham, John M; Boggula, Vijay Raju; Phadke, Shubha R; Kutsche, Kerstin.
In: AM J MED GENET A, Vol. 164A, No. 4, 01.04.2014, p. 1035-40.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
AU - Girisha, Katta M
AU - Abdollahpour, Hengameh
AU - Shah, Hitesh
AU - Bhavani, Gandham Srilakshmi
AU - Graham, John M
AU - Boggula, Vijay Raju
AU - Phadke, Shubha R
AU - Kutsche, Kerstin
N1 - © 2014 Wiley Periodicals, Inc.
PY - 2014/4/1
Y1 - 2014/4/1
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.36381
DO - 10.1002/ajmg.a.36381
M3 - SCORING: Journal article
C2 - 24458843
VL - 164A
SP - 1035
EP - 1040
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 4
ER -