LETTER TO JMG

Myhre syndrome: new reports, review, and differential diagnosis

L Burglen¹, D Héron², A Moerman^2,3, A Dieux-Coeslier³, J-P Bourguignon⁴, A Bachy⁵, J-C Carel⁶, V Cormier-Daire⁷, S Manouvrier³, A Verloes⁸

¹ Unité de Génétique Médicale, Service de Neuropédiatrie, Hôpital Trousseau, AP-HP, Paris, France
² Département de Génétique Médicale, Hôpital de la Pitié-Salpétriére, AP-HP, Paris, France
³ Département de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France
⁴ University Department of Paediatrics, Liége University, Liege, Belgium
⁵ Department of Paediatrics, Clinique Notre Dame, Charleroi, Belgium
⁶ Service d’Endocrinologie Pédiatrique, Hôpital Saint Vincent de Paul, AP-HP, Paris, France
⁷ Département de Génétique Médicale, Hocirc;pital Necker-Enfants Malades, AP-HP, Paris, France
⁸ Unité de Génétique Clinique, Hôpital Robert Debré, AP-HP & INSERM E9935, Paris, France

Correspondence to:
Correspondence to:
Dr A Verloes, Unité de Génétique Clinique, Hôpital Robert Debré & INSERM E9935, Paris, France;
alain.verloes@rdb.ap-hop-paris.fr

Keywords: Myhre syndrome; brachydactyly; deafness; autistic behaviour

The first 150 words of the full text of this article appear below.

Several conditions characterised by short fingers, reduced joint mobility, short stature, and muscular build with or without mental retardation have been delineated during the past 30 years: Moore-Federman syndrome, Myhre syndrome, acromicric dysplasia, geleophysic dysplasia, GOMBO syndrome, and LAPS (Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature) syndrome. In 1980 Myhre et al¹ reported two unrelated males with mental retardation, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism, short philtrum, small mouth), short stature, brachydactyly, muscle hypertrophy, decreased joint mobility, mixed hearing loss, and cleft lip and palate in one of them. X rays showed a thickened calvarium, hypoplastic iliac wings, broad ribs, and large, flattened vertebrae with large pedicles. Five further cases were reported. Mental retardation of variable severity was present in all patients. Three of the older patients had hypertension.

We report here four new unrelated patients who fit a diagnosis of Myhre syndrome, expanding the behavioural profile of . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

eLetters:

Read all eLetters

X-linked inheritance of Myhre syndrome is more likely than autosomal dominant.

Luigi Titomanlio, et al.

J Med Genet, 24 Jul 2003 [Full text]