syndactyly/asthenia

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[A Japanese case of Poland-Möbius syndrome].

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Logi sisse

We herein report a Japanese case of Poland-Möbius syndrome. The patient was a 19-year-old female. She was the product of a full-term forceps delivery. Birth weight was 2500 g. She had a defect of the right pectoral muscle, and syndactyly of the right hand. When she was 10 days old, facial diplegia,

Ocular findings in triploidy.

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Logi sisse

We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and

Neuromuscular features in the camera-marugo-cohen syndrome.

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Logi sisse

We describe the case of a 24-year-old Japanese man suffering from obesity, mental retardation, muscle weakness, camptodactyly, syndactyly, and a urinary tract cleft. His muscle weakness, which was slightly distally dominant in the extremities, was almost static and showed slow progression for

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.

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Logi sisse

BACKGROUND Fibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin. Marfan's syndrome and congenital contractural arachnodactyly (CCA) result from dominant mutations in the genes FBN1 and

Peroneal muscular atrophy with Poland syndrome.

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Logi sisse

A 22-year-old male college student had a syndactyly between the second and third fingers of his left hand, which was congenitally small in size. His left pectoralis muscles were absent. He first walked at the age of 12 months, but soon developed difficulties in walking due to weakness of the legs.

An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population.

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Logi sisse

Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely

[Genetic defects and disorders at the neuromuscular junction].

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Logi sisse

Genetic defects in molecules expressed at the neuromuscular junction (NMJ) cause congenital myasthenic syndromes (CMSs), which are characterized by muscle weakness, abnormal fatigability, amyotrophy, and minor facial anomalies. Muscle weakness mostly develops under 2 years but is also sometimes seen

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres

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Logi sisse

Objective: To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. Methods: The patients were recruited from our clinic. Muscle biopsy

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

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Logi sisse

Four siblings of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of congenital microcephaly, facial dysmorphism, strabismus, developmental delay and ataxia with positive pyramidal signs. Toward the end of their first decade, they developed areflexia, multiple

Extradural thoracic arteriovenous malformation in a patient with Klippel-Trenaunay-Weber syndrome: case report.

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Logi sisse

OBJECTIVE Spinal cord involvement in Klippel-Trenaunay-Weber (KTW) syndrome is rare. Cases of intradural spinal cord arteriovenous malformations (AVMs) have been associated with this syndrome. Likewise, cases of epidural hemangioma and angiomyolipoma have been reported to occur at the same segmental

Management of thumb duplication.

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Logi sisse

Radial polydactyly, a common congenital problem, most often occurs as thumb duplication. It appears in pentadactylous, polydactylous, and hypoplastic hands and is simulated by complex syndactyly. Classically, there are three categories for radial polydactyly: severe hypoplasia, partial duplication,

Poland-Mobius syndrome in an infant girl.

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Logi sisse

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis

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