Pedal polydactyly. A case report

Polydactyly is a common pedal deformity with great variation in clinical presentation. There is a tendency toward a higher incidence in previously affected families, but the actual occurrence rate of the different forms of polydactyly has not been agreed upon in the literature to date. Most authors agree that the isolated deformity is an expression of an autosomal dominant gene with varied penetrance. Syndromatically associated polydactyly is inherited as an autosomal recessive trait. Surgical intervention should be attempted as early as possible. Correction should be undertaken only after a thorough clinical and radiographic evaluation has been performed. The patient's postoperative goals should always be considered. It is not necessary to remove the supernumerary digit if it does not interfere with the foot's function and comfort. Cosmesis should not be the chief consideration. The surgeon should strive to return the foot to a more normal contour while maintaining or improving foot function.

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Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Journal of Veterinary Diagnostic Investigation ◽

10.1177/10406387211007526 ◽

2021 ◽

pp. 104063872110075

Author(s):

Tuddow Thaiwong ◽

Sarah Corner ◽

Stacey La Forge ◽

Matti Kiupel

Keyword(s):

Hair Loss ◽

Autosomal Recessive ◽

Early Death ◽

Deletion Mutation ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

German Shepherd ◽

Hair Coat ◽

Pituitary Dwarfism ◽

Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

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Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family

Clinical Science ◽

10.1042/cs0740231 ◽

1988 ◽

Vol 74 (3) ◽

pp. 231-236 ◽

Cited By ~ 35

Author(s):

Makram Al-Waiz ◽

Riad Ayesh ◽

Stephen C. Mitchell ◽

Jeffrey R. Idle ◽

Robert L. Smith

Keyword(s):

Oral Administration ◽

Inborn Error ◽

Autosomal Recessive ◽

Oral Challenge ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Challenge Dose ◽

The Third ◽

The Family ◽

Body Odour

1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ‘fish-odour’ symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.

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Arrest of human oocytes during meiosis I in two sisters of consanguineous parents: first evidence for an autosomal recessive trait in human infertility: Case report

Human Reproduction ◽

10.1093/humrep/17.10.2556 ◽

2002 ◽

Vol 17 (10) ◽

pp. 2556-2559 ◽

Cited By ~ 20

Author(s):

H. Schmiady

Keyword(s):

Case Report ◽

Autosomal Recessive ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Human Oocytes ◽

Meiosis I

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The genetic control of red cell glutathione deficiencies in Finnish Landrace and Tasmanian Merino sheep and in crosses between these breeds

The Journal of Agricultural Science ◽

10.1017/s002185960002760x ◽

1976 ◽

Vol 87 (2) ◽

pp. 315-323 ◽

Cited By ~ 25

Author(s):

Elizabeth M. Tucker ◽

L. Kilgour ◽

J. D. Young

Keyword(s):

Genetic Control ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Dominant Gene ◽

Red Cell ◽

Merino Sheep ◽

Gene Coding ◽

Transport Defect ◽

Low Levels ◽

Cysteine Synthetase

SummaryFinnish Landrace sheep with low red cell GSH concentrations resulting from a defective transport system for certain arnino acids were crossed with Tasmanian Merino sheep with a red cell GSH deficiency due to impaired activity of the enzyme γ-glutamyl cysteine synthetase. Inheritance data showed that the two types of GSH deficiency were under independent genetic control. In the Finnish Landrace breed, the gene coding for the transport defect (Trn) was inherited as an autosomal recessive and sheep homozygous for this gene had high red cell concentrations of lysine and ornithine (Ly ×) as well as low levels of GSH. In the Tasmanian Merino breed the GSH deficiency behaved as if controlled by an autosomal dominant gene (GSHL). Backcross breeding experiments resulted in lambs which had inherited both types of GSH deficiency. Evidence suggested that such ‘double low’ GSH lambs had an impaired viability. In Tasmanian Merinos the GSH deficiency was established prior to birth. Newborn Finnish Landrace lambs were clearly separable into two types on the basis of their red cell lysine and ornithine content but not on their GSH concentrations.

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Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

Journal of Experimental Medicine ◽

10.1084/jem.141.6.1464 ◽

1975 ◽

Vol 141 (6) ◽

pp. 1464-1469 ◽

Cited By ~ 56

Author(s):

N K Day ◽

R L'Esperance ◽

R A Good ◽

A F Michael ◽

J A Hansen ◽

...

Keyword(s):

Autosomal Recessive ◽

Genetic Factors ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Systemic Lupus ◽

Genetic Studies ◽

Large Pedigree ◽

Deficient Patient ◽

Heterozygous Carriers ◽

C2 Deficiency

Herediatary C2-deficiency has been shown to be transmitted asn an autosomal recessive characteristic. Recent evidence indicates that some genetic factors involved in the control of the complement (C) system in both man and mice are governed by genes localized within the major histocompatibility regionmthis study describes a large pedigree of the paternal family of a C2-deficient patient with systemic lupus erythematosusl It is shown that this condition is transmitted as an autosomal recessive trait, the heterozygous carriers having approximately half normal levels of C2. Furthermore, this trait was shown to be inherited in close linkage with an infrequent HL-A typw, 2,4A2. The maternal, C2-defective chromosome was shown to be transmitted by HL-AW10, W18 haplotypemthis same haplotype was described in a similar study by Fu et al. (6) to be associated with C2 deficiencymfinally, a third haplotype HL-A2,W18 carrying a defective C2 gene was demonstrated in a part of this pedigree.

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