Spondyloepiphyseal dysplasia, Cantu type

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


Total: 2

                       


(per page)
PMID (PMCID)
17515304
 MIXED_SAMPLE Adult
SED-brachydactyly and distinctive speech: report of two new cases.
Garcia-Cruz D, Zafra de la Rosa GF, Sanchez-Corona J, Nazara Z, Lopez-Cardona MG, Garcia-Ortiz JE, Corona-Rivera JR, Cantu JM.
Genet Couns. 2007;18(1):85-97.
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.
17515304
 MIXED_SAMPLE Adult
SED-brachydactyly and distinctive speech: report of two new cases.
Garcia-Cruz D, Zafra de la Rosa GF, Sanchez-Corona J, Nazara Z, Lopez-Cardona MG, Garcia-Ortiz JE, Corona-Rivera JR, Cantu JM.
Genet Couns. 2007;18(1):85-97.
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.