Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple dislocations of the large joints including the knees, and dysmorphic features including a short and upturned nose with a depressed nasal bridge and midface hypoplasia. An autosomal dominant mode of inheritance has been suggested. We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature.
Holder-Espinasse
Muriel
M
Service de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France Service d'ORL, Hôpital Claude Huriez, Lille, France Service de Re´animation pe´diatrique, Hôpital Jeanne de Flandre, Lille, France De´partement de Ge´ne´tique Me´dicale, Hôpital Necker-Enfants Malades, Paris, France Department of Radiology, Great Ormond Street Hospital for Children, London, UK.
Fayoux
Pierre
P
Morillon
Sandrine
S
Fourier
Catherine
C
Dieux-Coeslier
Anne
A
Manouvrier-Hanu
Sylvie
S
Le Merrer
Martine
M
Hall
Christine M
CM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D019066:Facies; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000150:complications* / Q000235:genetics; D007829:Laryngostenosis / Q000150:complications* / Q000175:diagnosis*; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis*; D010641:Phenotype