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Results for “Hand Deformities”

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At least 973 records · Page 54Linked to original sources
PubMed1999

Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?

We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder.

Abnormalities, Multiple↗
PubMed1999

Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails and distal phalanges, and also having distinct facies, might be identical to individuals having 'Cooks syndrome'.

Child↗
PubMed1999

[New methods of joint replacement in the hand yield better function and pain relief].

Arthroplasty of the hand has hitherto been performed with rather simple methods such as the interposition of soft tissue or silicone implants. Surface replacement techniques, both cemented and cementless, currently routine methods in orthopaedic surgery, are becoming more and more commonly used in hand surgery. The article consists in a review of old and new methods for the replacement of wrist and finger joints, and a report of the results of osseo-integrated titanium implants in metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints, and of short-term outcome of non-constrained implants in wrist and PIP joints.

Arthroplasty, Replacement↗
PubMed1999

An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.

We report details of a neonate with cranial bone dysplasia, broad nasal bridge, microphthalmia, optic and olfactory nerve anomalies, pulmonary segmentation defects, polydactyly, abnormally positioned and shaped thumbs, absent mesentery to the gut and streak gonads. Review of the literature and relevant databases does not identify a likely diagnosis.

Abnormalities, Multiple↗
PubMed1999

Expanding the phenotype of Filippi syndrome: a report of three cases.

This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiological findings are described to further delineate and expand the clinical spectrum of the condition.

Abnormalities, Multiple↗
PubMed1999

Precision grip with congenital hypoplasty or hypofunction of the thumb.

We tested the grip in four patients with congenital defects of the hand and either a hypoplastic thumb or a thumb with impaired inervation. Small objects were taken by a scissors grip between the fingers. In a hand with radial duction in the manus vara congenita, during strengthening of the wrist, the grip from the ulnar side between the fourth and fifth fingers was changed to the radial side between the second and third fingers. Large objects were gripped by all the three-phalanx fingers into the palm in a horizontal position. In case 4 with hypoplasia of the thumb grade IIIC by the classification of Blauth and Buck-Gramcko, we describe a transposition of the index finger to the site of the thumb and the hypoplastic thumb to the site of the index finger. It is obvious that the precision grip is affected by the thumb length and strengthening of the ulnar side of the wrist. We assume that the scissors grip is the earliest precision grip in the evolution of the primate hand.

Child↗
PubMed2001

Fuhrmann syndrome associated with cortical dysplasia.

We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias, inguinal hernia and cortical dysplasia in a consanguineous Turkish Family. The MCA syndrome in the present patient is similar to these reported in 3 affected sibling by Fuhrmann et al.

Abnormalities, Multiple↗
PubMed2001

[F-syndrome].

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Foot Deformities, Congenital↗
PubMed2001

[Acheiropody].

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Foot Deformities, Congenital↗
PubMed1975

Trisomy 13 with a 13q14q translocation.

A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q)+ karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented.

Abnormalities, Multiple↗