Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings
Balkan Journal of Medical Genetics, 2019 Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations.
Joksic I +8 more
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Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]
, 2018 Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S +7 more
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Association between hypertelorism and nonsyndromic oral clefts
Brazilian Journal of Oral Sciences, 2018 Hypertelorism is characterized by the increased distance between the orbits, measured from the most medial portion of its inner walls. It represents a signal found in sev eral craniofacial defects, and oral clefts.
Luciano Sólia Nasser +5 more
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]
, 2017 Andrews, Marisa V +2 more
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Isolation and characterisation of the chick orthologue of the Opitz syndrome gene, Mid1, supports a conserved role in vertebrate development [PDF]
, 2002 © UBC PressThe X-linked form of Opitz syndrome (OS) is caused by loss of function of the microtubule-associated MID1 protein. The phenotype of OS includes defects along the central body axis, namely hypertelorism, cleft lip and palate, hypospadias and ...
Cox, L. +4 more
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A Case Report of Multiple Odontogenic Keratocysts in Gorlin Syndrome
پزشکی بالینی ابن سینا, 2014 Introduction: Gorlin syndrome is a rare disorder with different diagnostic criteria such as mul-tiple odontogenic keratocysts, basal cell carcinomas, palmar ;plantar pits, frontal bossing and hypertelorism and calcification of falx cerebri.
Hamid Reza Abdolsamadi +3 more
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Midline1 and the development of the cranial peripheral nervous system [PDF]
, 2008 Genetic abnormalities involving the skull and facial region account for around 1/3 of birth defects. Opitz BBB/G syndrome is one such disorder that gives rise to craniofacial malformations, as well as midline defects that cause gastrointestinal ...
Golding, Jon +2 more
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The Pan-American Journal of Ophthalmology, 2017 Purpose: To determine the relationship between pseudostrabismus and predictors of increased frequency of this presentation in our environment: epicanthus and hypertelorism.
Mercedes Zambrano Paco +1 more
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Facial cleft syndrome-A case report
Indian Journal of Ophthalmology, 1990 A rare case of facio-orbital anamoly having dermolipoma with posterior extension, lid notch, ectropion, assymetric hypertelorism and lipoma of corpus callosum is presented. The classification of the facial cleft deformities and the surgical management is
Betharia S, Kumar Sushil
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LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report
The Turkish Journal of Pediatrics, 2004 The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities ...
Ergun Cetinkaya +6 more
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