Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family.
We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.
Al-Gazali
Lihadh
L
Department of Paediatrics, Faculty of Medicine & Health Sciences Al Ain Hospital Hospital Tawam Hospital, Al Ain, UAE.
Nath
Raveendra
R
Iram
Durdana
D
Al Malik
Hadi
H
D000015:Abnormalities, Multiple / Q000473:pathology*; D018912:Arabs; D003241:Consanguinity; D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications*; D013577:Syndrome