Portal de Periódicos da CAPES

Autosomal recessive Melnick‐Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report

1995; Wiley; Volume: 56; Issue: 3 Linguagem: Inglês

10.1002/ajmg.1320560320

1096-8628

Ben C.J. Hamel, Jos Draaisma, A. Pinckers, C. Boetes, Rainer L. E. Hoppe, Hans‐Hilger Ropers, Han G. Brunner,

Connective tissue disorders research

Abstract We report on a patient with congenital glaucoma, brachycephaly with flat occiput, large anterior fontanel, hypertelorism, anteverted nostrils, thoracolumbar kyphosis, prominent coccyx with skin fold, short hands and feet, flexion deformity of fingers, and clubfeet. He had a double‐outlet right ventricle with ventricular septal defect, and severe tricuspid insufficiency. Mild skeletal changes included short tubular bones, absence of distal phalanges of toes, caliber variation of ribs, and scalloping of the anterior surface of vertebrae. The patient died at age 21 months. He belongs to the same extended family as 3 similarly affected patients, previously described by ter Haar et al. [1982: Am J Med Genet 13:469–477] as representing an autosomal recessive form of Melnick‐Needles syndrome. We believe this diagnosis is no longer tenable. After having reviewed the relevant literature, we conclude that most probably we are dealing with a new autosomal recessive syndrome. We propose to name this entity ter Haar syndrome. © Wiley‐Liss, Inc.