brachydactyly/offita

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Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

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A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies,

[Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity].

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To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential

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

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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

Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.

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An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However,

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

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Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial

[A rare type of severe obesity in children and adolescents].

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A four-year-old girl was referred to a paediatric department with low height, obesity and hypothyroidism. Her paraclinical tests were characteristic with elevated P-parathyroid hormone concentration, hypothyroidism, growth hormone deficiency, abnormal phenotype with brachydactyly, tooth problems and

A syndrome with midface asymmetry, defective modelling of the skeleton, catch-up growth and truncal obesity.

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We report follow-up from birth up to 16 years of age of a patient with a previously undescribed combination of dysmorphic features. These include: intrauterine growth retardation developing to normal adult stature with truncal obesity, asymmetry of the midface skeleton with severe orthodontic

Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers.

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We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia,

Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.

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Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature and/or obesity. Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of

Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: a hitherto unreported syndrome?

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A 13-year-old boy and his 28-year-old sister had short stature, obesity, and a pattern of minor anomalies including a sloping, narrow forehead; small ears; a narrow nose with prominent bridge and long septum; short upper lip; receding mandible; and short limbs with brachydactyly and clinodactyly of

[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus].

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A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe

Intracranial calcification and brachydactyly mimicking Albright's hereditary osteodystrophy in an adult patient with lingual thyroid and prolactinoma-like lesion.

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Hyperprolactinemia and prolactinoma in patients with long-term primary hypothyroidism have been recognized for decades. We report a case of 57-year-old female patient with lingual thyroid and cretinism who had a high serum prolactin level (greater than 200 ng/ml) and a pituitary tumor with

Identification of a novel mutation in a pseudohypoparathyroidism family.

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Pseudohypoparathyroidism type Ia (PHP Ia) is defined as a series of disorders characterized by multihormone resistance in end-organs and Albright hereditary osteodystrophy (AHO) phenotype. PHP Ia is caused by heterozygous inactivating mutations in GNAS, which encodes the stimulatory G-protein alpha

Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.

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Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature,

Clinical spectrum of male patients with OFD1 mutations.

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Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic lesion of the kidney and central nervous involvement. OFD1 shows an X-linked recessive inheritance caused by mutation in the OFD1 gene

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