TY - JOUR
T1 - Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities
T2 - A novel phenotype
AU - Shah, Hitesh
AU - Bens, Susanne
AU - Caliebe, Almuth
AU - Graham, John M.
AU - Girisha, Katta Mohan
PY - 2012/11
Y1 - 2012/11
N2 - We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype.
AB - We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype.
UR - http://www.scopus.com/inward/record.url?scp=84867880976&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867880976&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35618
DO - 10.1002/ajmg.a.35618
M3 - Article
C2 - 22987502
AN - SCOPUS:84867880976
SN - 1552-4825
VL - 158 A
SP - 2941
EP - 2945
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -