Results 71 to 80 of about 1,007 (198)
Case Report - Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome [PDF]
, 2012 Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with mild
Shawky, RM, Seifeldin, NS, Elsayed, NS
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Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair
, 2017 Frank-ter Haar syndrome (FTHS) is an autosomal recessive disorder characterized by abnormalities that affect the development of bone, heart, and eyes.
Puerta, Herminia S +9 more
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Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model [PDF]
, 2017 Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by enlarged anterior eye segments. Mosaic corneal degeneration, presenile cataract and secondary glaucoma are associated with XMC.
Krawitz, Peter +18 more
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Novel CHRDL1 missense mutation in a patient diagnosed with MMR.
, 2014 (A) Pedigree of Family K with megalocornea-mental retardation (MMR) syndrome. Squares, males; circles, females; diamonds, unknown gender; shaded, affected; dotted, carrier; clear, unaffected. Arrowhead indicates proband.
Pirro G. Hysi (110207) +22 more
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Unilateral glaucoma in Sotos syndrome (cerebral gigantism)
, 1998 PURPOSE: To report a patient with unilateral glaucoma associated with Sotos syndrome. Sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function.
Michael T Yen +5 more
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Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case
, 2005 Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature.
VENTURA P +6 more
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, 2002 We report two sisters with Neuhauser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome. They also had hypotonia, incomplete cleft palate, bifid uvula, depressed nasal bridge, epicanthal folds, hypoplastic labia major, micrognathia ...
Gedik, S, Balci, S, Teksam, O
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Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018 Axenfeld-Rieger syndrome is a rare congenital disease that has an autosomal-dominant inheritance pattern. The ophthalmic disorder with the dysgenesis of the anterior segment is what defines the disease. This study presents the case of a 9-month-old still-
Kenia Verdecia-Jacobo +2 more
doaj
OkulistykaIntroduction: Silicone oil is a widely used intraocular tamponade in complex retinal detachment surgery. However, its use may lead to secondary glaucoma, with reported incidence ranging from 5% to 56%.
Rafał Woś +2 more
doaj +1 more source