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 characterize...

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Bibliographic Details
Published in:	Genetic counseling Vol. 18; no. 1; p. 85
Main Authors:	García-Cruz, D, Zafra de la Rosa, G F, Sánchez-Corona, J, Nazará, Z, López-Cardona, M G, García-Ortiz, J E, Corona-Rivera, J R, Cantú, J M
Format:	Journal Article
Language:	English
Published:	Switzerland 2007
Subjects:	Abnormalities, Multiple - genetics Adolescent Adult Child, Preschool Dwarfism - genetics Facies Female Fingers - abnormalities Genetic Diseases, X-Linked Hair Humans Male Speech Disorders - genetics Syndrome Toes - abnormalities
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Summary:	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.
ISSN:	1015-8146