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Ehlers‐Danlos features with progeroid facies and mild mental retardation
Author(s) -
Hernández Alejandro,
AguirreNegrete María Guadalupe,
GonzálezFlores Silvia,
ReynosoLuna Martha Celina,
Fragoso Rubén,
Nazará Zamira,
AND Guadalupe TapiaArizmendi,
Cantú Jose María
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb01910.x
Subject(s) - joint hypermobility , ehlers–danlos syndrome , connective tissue disorder , anatomy , dermatology , medicine , biology , pathology
A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' fibrous portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.