Familial Camptodactyly with Taurinuria

Nevin, N. C.; Hurwitz, L. J.; Neill, D. W.

doi:10.1136/jmg.3.4.265

Cited by 22 publications

(7 citation statements)

References 10 publications

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“…Other possible differential diagnoses. A number of other autosomal dominant conditions should be mentioned in the differential diagnosis of congenital distal contractures: camptodactyly with sensorineural hearing loss [81]; camptodactyly, ptosis, pectus, hypogonadism [38] ; the Emery-Nelson syndrome [82]; brachydactyly-symphalangism [77] ; isolated familial camptodactyly [24,93]; camptodactyly with taurinuria [63]; camptodactyly with absent dermal ridges [5,6]; and clasped thumb [go]. They share fewer characteristics with distal arthrogryposis than the whistling face syndrome, trismus-pseudocamptodactyly, and contractural arachnodactyly but are included here for the sake of nosologic completeness.…”

Section: Freeman-sheldon (Whistling Face) Syndrome (Appendix C) *mentioning

confidence: 99%

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

1982

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We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudo-camptodactyly syndrome, congenital contractural arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.

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Section: Freeman-sheldon (Whistling Face) Syndrome (Appendix C) *mentioning

confidence: 99%

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

1982

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“…Parish, Horn, and Thompson (1963) reported a family in which a somewhat atypical form of camptodactyly was associated with an abnormal urinary constituent, probably on a-amino acid. Nevin, Hurwitz, and Neill (1966) reported the presence of increased taurinuria in members of 4 families with typical camptodactyly. These observations of a biochemical abnormality accompanying a connective tissue disorder showing the autosomal dominant pattern of inheritance would, if confirmed, be of great importance.…”

mentioning

confidence: 99%

Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance.

Gordon¹,

Davies²,

Berman³

1969

Journal of Medical Genetics

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“…Following the observations of Parish, Horn, and Thompson (1963) and of Nevin, Hurwitz and Neill (1966) that in some cases of camptodactyly there may be an associated aminoaciduria and particularly taurinuria, urine from all affected members in both families was screened for aminoaciduria.…”

Section: Discussionmentioning

confidence: 99%

Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes.

Goodman¹,

Katznelson²,

Manor³

1972

Journal of Medical Genetics

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Familial Camptodactyly with Taurinuria

Cited by 22 publications

References 10 publications

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance.

Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes.

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