title: Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
abstract: We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia of distal phalanges of 2-5th toes, with tiny toenails, and aplasia or nails of 5th fingers and right 5th toe in the younger sister. Dysmorphic facial features included high forehead, sparse hair, blepharophimosis, telecanthus, epicanthic folds, a low nasal bridge, a broad nasal tip and micrognathia. Their ears were low-set and malformed. The older sister additionally had a high-pitched voice and eczema on the face and limbs. In the younger sister a cardiac defect was diagnosed--ventricular and atrial septal defect, patent ductus arteriosus. They had some clinical features of Coffin-Siris syndrome, but with a milder phenotype and much less severe mental handicap. Their clinical picture resembles more the brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome.
authors.affiliation: Medical Genetics Center, Tartu University Children's Hospital, Estonia. kati@dna.cut.ee
authors.forename: K
authors.initials: K
authors.lastname: Ounap
authors.forename: I
authors.initials: I
authors.lastname: Justus
authors.forename: M
authors.initials: M
authors.lastname: Lipping-Sitska
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome