brachydactyly/seizures

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Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?

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Logáil Isteach / Cláraigh

Brachydactyly is a relatively common congenital anomaly and can be associated with many other malformations. However, brachydactyly in association with biliary atresia is rare. We present a male child with strikingly symmetrical brachydactyly and nail hypoplasia, extrahepatic biliary atresia, patent

Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome.

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Logáil Isteach / Cláraigh

We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

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Logáil Isteach / Cláraigh

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial

Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood.

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Logáil Isteach / Cláraigh

Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. BDMR could be misdiagnosed as Albright hereditary osteodystrophy (AHO), because it presents with lack of hormone

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Post-translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the covalent addition of a methyl group to arginine or lysine residues, which is used to regulate a substantial proportion of the proteome.

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

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Logáil Isteach / Cláraigh

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently

Two teenage males with hypocalcemia and elevated parathyroid hormone levels.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Vitamin D deficiency is not a rare disorder, particularly in minority groups. The Institute of Medicine recommends serum 25-hydroxyvitamin (OH)D levels >20 ng/mL and The Endocrine Society recommends levels >30 ng/mL for good health. In contrast, the 2003-2006 National Health and Nutrition

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

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Logáil Isteach / Cláraigh

Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. In order to delineate the phenotype and its natural history in more detail, we gathered data on 18 hitherto unreported patients through a multi-center collaborative study, and follow-up data

Thanatophoric Dysplasia

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Logáil Isteach / Cláraigh

Clinical characteristics: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: Other features common to type I and type II include: short

Clinical and Genetic Characteristics of Pseudohypoparathyroidism in the Chinese Population.

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Logáil Isteach / Cláraigh

BACKGROUND Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B and familial 1B. OBJECTIVE To

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

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Logáil Isteach / Cláraigh

In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype,

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

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Logáil Isteach / Cláraigh

Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A

Teratogenic effects of carbamazepine on embryonic eye development in pregnant mice.

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Logáil Isteach / Cláraigh

BACKGROUND Carbamazepine is an antiepileptic drug used widely for the treatment of epileptic seizures and neuropathic pain. Several malformations in humans, mainly neural tube defects, have been reported as a consequence of its use during pregnancy. The association between maternal use of

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