Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.
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DOI: 10.1055/s-0039-3402047
Abstract: The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis… read more here.
Keywords: microphthalmia linear; skin defects; linear skin; cleft palate ... See more keywords
Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
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DOI: 10.1111/ijd.14905
Abstract: Microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome, later renamed microphthalmia with linear skin defects (MLS) syndrome due to the absence of dermal aplasia, is inherited in an X-linked manner with lethality in males. Structural chromosomal… read more here.
Keywords: microphthalmia linear; syndrome associated; skin defects; linear skin ... See more keywords
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder
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DOI: 10.3390/genes12020263
Abstract: Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare,… read more here.
Keywords: congenital anomalies; skin defects; linear skin; disorder ... See more keywords