Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.
Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because of consanguinity in three of the four sibships. Some overlap with the 3-M syndrome is discussed but the autonomy of the gloomy face syndrome seems to be real.
Le Merrer
M
M
U12 Unité de Recherche INSERM sur les Handicaps Génétiques de l'Enfant, Hôpital des Enfants-Malades, Paris, France.
Brauner
R
R
Maroteaux
P
P
D002675:Child, Preschool; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree