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Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.

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Intellectual disability is a heterogeneous disorder with a wide phenotypic spectrum. Over 1,700 OMIM genes have been associated with this condition, many of which reside on the X-chromosome. The IQSEC2 gene is located on chromosome Xp11.22 and is known to play a significant role in the maintenance

[Clinical phenotype and genetic analysis of MED13L syndrome].

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A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge,

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.

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We report on siblings with probable Adams-Oliver syndrome. The older brother had symmetric intra-uterine growth retardation, plagiocephaly, a cardiac defect and periventricular calcification. The younger sister was born with abdominal and scalp skin defects and small fingers and toes. Prenatal

Surgical Correction of Unicoronal Craniosynostosis with Frontal Bone Symmetrization and Staggered Osteotomies.

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Craniosynostosis is the premature fusion of one or more cranial sutures that produce abnormal head shape. Plagiocephaly is a general term that describes unilateral flattening of the anterior or posterior quarter of the cranium. Anterior plagiocephaly is almost always due to unilateral

Faciocardiorenal syndrome: a wide clinical spectrum?

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Faciocardiorenal syndrome (FCRS), also named Eastman-Bixler syndrome, is an apparent autosomal recessive entity, characterized by endocardial fibroelastosis, unusual facial appearance, renal defects and mental retardation. We report a 7 months male patient, with the diagnosis of endocardial

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

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The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-linked dominant, male lethal disorder caused by

Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient.

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We report a patient with congenital muscular dystrophy (CMD), developmental brain defects, and peripheral neuropathy. Marked hypotonia and plagiocephaly were noted at birth. Failure to thrive, generalized muscle weakness and wasting, absent deep tendon reflexes, partial seizures, and secondary

[Ring chromosome 20, hypersensitivity to valproate and hyperammonemic encephalopathy].

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BACKGROUND Ring chromosome 20 syndrome (C20A) is characterised by mental retardation, behavioural disorders, dysmorphias and refractory epilepsy with polymorphic seizures. It should therefore be treated with broad-spectrum antiepileptic drugs (AEDs), such as valproate (VPA) and topiramate (TPM). The

Twenty-year experience with early surgery for craniosynostosis: I. Isolated craniofacial synostosis--results and unsolved problems.

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Early surgery for isolated craniosynostosis is designed to improve morphology, to prevent functional disturbances, and equally important, to enhance the psychosocial development of the child. As the first of a two-part series, 104 patients with isolated craniofacial synostosis were retrospectively

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Herbal & Natural Medicine

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