Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.
In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.
Orrico
A
A
Medical Genetics, Azienda Ospedaliera Senese, Siena, Italy. orrico@unisi.it
Galli
L
L
Zappella
M
M
Orsi
A
A
Hayek
G
G
D000293:Adolescent; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D013577:Syndrome