نتایج جستجو برای: clinodactyly
تعداد نتایج: 143 فیلتر نتایج به سال:
Musculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed examine the final diagnosis in patients who presented with musculoskeletal complaints rheumatology department. Patients Department of Pediatric Rheumatology and were referred pediatric department between January 2015 May 2019 evaluated retrospectively. A total 60 patients, 19 boys (31.66%), a me...
49,xxxxy is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. we reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...
Objective This study aims at determining the prevalence of little finger brachymesophalangia (BMP-V) in Chinese ethnic population. Methods A retrospective reviewing hand radiographs taken United Christian Hospital from January 2011 to July 2016. Exclusion criteria included previous trauma, background history genetic syndromes and non-Chinese origin. The were assessed with objective measurement ...
We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed moto...
In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome d...
Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), ...
Abstract Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were fu...
We report on a 10.5-year-old girl with a mild form of campomelic dysplasia. She presented with short stature of prenatal onset, dysmorphic facial features, limitation of supination and pronation of the forearms, dysplastic nails, and bone abnormalities consisting especially of cone-shaped epiphyses of the middle phalanx of the 2nd fingers, brachydactyly and clinodactyly of the middle phalanx of...
Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to cause Catel-Manzke syndrome. Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre ...
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