title: A mother and three daughters with congenital dislocation of the hip and a characteristic facial appearance: a new syndrome?
abstract: We describe a mother and her three daughters who all have bilateral congenital dislocation of the hip. The mother has had no other medical problems and is on the 90th centile for height. Her three daughters resemble each other strongly with facial characteristics which include hypertelorism, epicanthic folds, puffiness around the eyes, a flat mid-face and a carp-shaped mouth. All three daughters are on the 3rd centile for height, with their head circumference on a higher centile and all had an ASD. Other features include congenital dislocation of one knee (one), congenital inguinal hernia (one) and vesico-ureteric reflux (one). They also have clinodactyly and hyperextensible finger joints, both features also seen in their father, whose height is on the 3rd centile and who had bilateral congenital inguinal herniae. Collagen studies of skin and ligament were normal. This family does not appear to fit with any of the recognized congenital dislocation syndromes and we suggest that they may represent a previously undescribed syndrome.
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
authors.forename: A L
authors.initials: AL
authors.lastname: Collins
authors.forename: N R
authors.initials: NR
authors.lastname: Dennis
authors.forename: N
authors.initials: N
authors.lastname: Clarke
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005384:Finger Joint / Q000002:abnormalities; D006618:Hip Dislocation, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome