Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
We report on two unrelated cases born to nonconsanguineous parents with a similar clinical presentation: hypotonia since the neonatal period, severe failure to thrive, postnatal growth retardation, facial dysmorphism, congenital cardiac defects (septal defect and non progressive multiple valve dysplasia), shortened extremities, carpal/tarsal and extensive vertebral synostosis, delayed carpal bone age, deafness, and inner ear malformations. Presently, both patients present with normal psychomotor development. Additional abnormal findings include extra oral frenulum, nasal speech, and vesico-ureteral reflux. Molecular analysis in one patient excluded the Noggin gene and Filamin B (FLNB) was excluded in the other patient. Although some features are similar to spondylocarpotarsal synostosis syndrome, the exclusion of FLNB and this constellation of findings suggest a new entity, closely similar to an autosomal dominant condition reported by Forney et al. 1966 in a unique family. Identification of similarly affected patients should aid in the further elucidation of this syndrome.
Sousa
Sérgio B
SB
Département de Génétique et INSERM U781, AP-HP, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.
Baujat
Geneviéve
G
Abadie
Véronique
V
Bonnet
Damien
D
Sidi
Daniel
D
Munnich
Arnold
A
Krakow
Deborah
D
Cormier-Daire
Valérie
V
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D007758:Ear, Inner / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D013577:Syndrome; D013580:Synostosis / Q000235:genetics*