SED-brachydactyly and distinctive speech: report of two new cases.
We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis. The clinical and radiological features present in mother and son suggest a probable autosomal dominant mode of inheritance and variable expressivity.
García-Cruz
D
D
Instituto de Genética Humana "Dr. Enrique Corona Rivera", Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, México. dianagarc@prodigy.net.mx
Zafra de la Rosa
G F
GF
Sánchez-Corona
J
J
Nazará
Z
Z
López-Cardona
M G
MG
García-Ortiz
J E
JE
Corona-Rivera
J R
JR
Cantú
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D040181:Genetic Diseases, X-Linked; D006197:Hair; D006801:Humans; D008297:Male; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*