MIDAS Syndrome (Microphthalmia with Linear Skin Defects)
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MIDAS Syndrome (Microphthalmia with Linear Skin Defects). / Hagel, Christian; Panteliadis, Christos.
Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . Hrsg. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. Aufl. Zürich : Springer International Publishing, 2022. S. 227-230.Publikationen: SCORING: Beitrag in Buch/Sammelwerk › Kapitel › Forschung
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TY - CHAP
T1 - MIDAS Syndrome (Microphthalmia with Linear Skin Defects)
AU - Hagel, Christian
AU - Panteliadis, Christos
PY - 2022/2/4
Y1 - 2022/2/4
N2 - Microphthalmia, dermal aplasia, and sclerocornea (acronym MIDAS) or microphthalmia with linear skin defects (MLS; OMIM 309801) was first described in 1988 in three patients with XY translocations and alterations at Xp22.3. The disorder is X-linked and lethal in males with a hemizygous state (XY). It is caused by mutations in genes coding for enzymes of the mitochondrial respiratory chain. The most consistent clinical features of MIDAS are microphthalmia and/or anophthalmia, sclerocornea, and linear skin defects with dermal aplasia limited to face and neck. Additional findings may include agenesis of corpus callosum, chorioretinal abnormalities, hydrocephalus, anal atresia with ectopic anus, seizures, intellectual deficit, and nail dystrophy. At present, about 50 well-documented cases have been registered worldwide. The etiology, clinical features, diagnosis, and recommendations are reviewed in this chapter.
AB - Microphthalmia, dermal aplasia, and sclerocornea (acronym MIDAS) or microphthalmia with linear skin defects (MLS; OMIM 309801) was first described in 1988 in three patients with XY translocations and alterations at Xp22.3. The disorder is X-linked and lethal in males with a hemizygous state (XY). It is caused by mutations in genes coding for enzymes of the mitochondrial respiratory chain. The most consistent clinical features of MIDAS are microphthalmia and/or anophthalmia, sclerocornea, and linear skin defects with dermal aplasia limited to face and neck. Additional findings may include agenesis of corpus callosum, chorioretinal abnormalities, hydrocephalus, anal atresia with ectopic anus, seizures, intellectual deficit, and nail dystrophy. At present, about 50 well-documented cases have been registered worldwide. The etiology, clinical features, diagnosis, and recommendations are reviewed in this chapter.
M3 - Chapter
SN - 978-3-030-87892-4
SP - 227
EP - 230
BT - Neurocutaneous Disorders
A2 - Panteliadis, Christos
A2 - Benjamin, Ramsis
A2 - Hagel, Christian
PB - Springer International Publishing
CY - Zürich
ER -
