Presence of congenital anomalies in three dog litters.

This report describes multiple congenital malformations found in three dog litters delivered by emergency caesarean section. In all of the litters, some puppies were born alive but were euthanized because of the seriousness of their malformations and low probability of survival. In two litters, gastroschisis was associated with amelia of the right anterior limb. Other malformations such as anencephaly were also found in three puppies among the different litters. This report describes the morphological findings of the affected puppies, discusses the most appropriate terminologies for each case and highlights the importance of an epidemiological survey to identify potential factors associated with the cases.

A third case of amelia in Morelet's crocodile from the Yucatan Peninsula.

Congenital defects in crocodilians have received little interest. In the context of global change and increasing threats to biodiversity, data on birth defects occurring in wildlife could be of importance for estimating the health of species populations and their ecosystems. Herein, we report the first case of amelia (i.e. absence of limbs) in Morelet's crocodiles Crocodylus moreletii from Mexico and the third on the southern Yucatan Peninsula. The crocodile in question was a juvenile (41 cm total length) captured in July 2012 in the Río Hondo, the river that forms the border between Mexico and Belize south of the state of Quintana Roo. The prevalence of this malformation in the C. moreletii population of Río Hondo (0.35%) is similar to that reported in 2 previous cases in Belize. Several causes of birth defects in crocodilians have previously been cited in the literature. Although we do not have relevant information to elucidate this case, we discuss some plausible explanations for this birth defect.

Cardiomyopathy associated 5 (CMYA5) implicated as a genetic risk factor for radial hemimelia in Siamese cats.

OBJECTIVES: The present study aimed to determine the inheritance pattern and genetic cause of congenital radial hemimelia (RH) in cats. METHODS: Clinical and genetic analyses were conducted on a Siamese cat family (n = 18), including two siblings with RH. Radiographs were obtained for the affected kittens and echocardiograms of an affected kitten and sire. Whole genome sequencing was completed on the two cases and the parents. Genomic data were compared with the 99 Lives Cat Genome data set of 420 additional domestic cats with whole genome and whole exome sequencing data. Variants were considered as homozygous in the two cases of the siblings with RH and heterozygous in the parents. Candidate variants were genotyped by Sanger sequencing in the extended pedigree. RESULTS: Radiographs of the female kitten revealed bilateral absence of the radii and bowing of the humeri, while the male kitten showed a dysplastic right radius. Echocardiography suggested the female kitten had restrictive cardiomyopathy with a positive left atrial-to-aortic root ratio (LA:Ao = 1.83 cm), whereas hypertrophic cardiomyopathy was more likely in the sire, showing diastolic dysfunction using tissue Doppler imaging (59.06 cm/s). Twenty-two DNA variants were unique and homozygous in the affected kittens and heterozygous in the parents. Seven variants clustered in one chromosomal region, including two frameshift variants in cardiomyopathy associated 5 (CMYA5) and five variants in junction mediating and regulatory protein, P53 cofactor (JMY ), including a missense and an in-frame deletion. CONCLUSIONS AND RELEVANCE: The present study suggested an autosomal recessive mode of inheritance with variable expression for RH in the Siamese cat family. Candidate variants for the phenotype were identified, implicating their roles in bone development. These genes should be considered as potentially causal for other cats with RH. Siamese cat breeders should consider genetically testing their cats for these variants to prevent further dissemination of the suspected variants within the breed.

Chromosome instability in Mediterranean Italian buffaloes affected by limb malformation (transversal hemimelia).

For several years, a genetic disease called transversal hemimelia (TH), also known as congenital amputation, has been spreading in Mediterranean Italian buffalo. TH is characterized by the lack of limb distal structures, normally developing proximally to the malformed limb and being amputated at different points distally. A sample of 13 animals affected by TH was examined using the chromosome aberration (CA) test to better characterize chromosome instability already emerging in a preliminary study where we found a significantly higher difference (P < 0.001) in the mean rate of sister chromatid exchange/cell (8.80 +/- 3.19) performed in 10 malformed animals, when compared with the control (6.61 +/- 2.73). The percentage of aneuploid cells was higher in animals with TH (12.76) than in control animals (7.85). Mean gaps are greater in cells of animals with TH (6.62 +/- 2.38) than those found in the control (2.86 +/- 1.01) and similar results were obtained in chromatid breaks (0.13 +/- 0.31 and 0.07 +/- 0.06, respectively), chromosome breaks (0.11 +/- 0.27 and 0.06 +/- 0.13, respectively) and CAs excluding gaps (0.24 +/- 0.47 and 0.13 +/- 0.18, respectively). All these differences are statistically highly significant (P < 0.001).

Two cases of feline ectromelia: autopodium ectromelia associated with humero-ulnar synostosis and zeugopodium ectromelia.

Congenital limb deformities are rarely reported in cats. This paper describes the radiographic findings of congenital forelimb malformations in two cats. The radiographic changes were suggestive of an autopodium ectromelia associated with humero-ulnar synostosis in one case and zeugopodium ectromelia in the other case. Congenital feline limb deformities are poorly documented and, to the authors' knowledge, this is the first time that humero-ulnar synostosis has been reported in cats.

Increased SCE levels in Mediterranean Italian buffaloes affected by limb malformation (transversal hemimelia).

In recent years some buffalo farms in Campania have reported the birth of calves with limb malformation, especially with transversal hemimelia. We investigated 20 Mediterranean Italian buffaloes (8 males and 12 females) from one day to six months of age, of which 10 were affected by transversal hemimelia (group 1) and 10 were healthy controls (group 2). The following clinical and radiological patterns were observed in the malformed animals: hind limbs amputated, the right amputated off the second tarsus bones and the left amputated off the proximal epiphysis metatarsus, and the right thoracic limb hypoplasic (1 female); left hind limb amputated off the proximal epiphysis metatarsus (2 females and 1 male); left hind limb amputated off the third tarsus bones (1 female); left hind limb amputated off the tibia (1 female and 1 male); left hind limb amputated off the distal epiphysis metatarsus (1 female); left hind limb amputated off the first phalanx (1 male); right hind limb amputated off the proximal epiphysis metatarsus (1 male). In their malformed limbs all the animals presented more or less developed outlines of claws. The mean rate of SCE/cell in animals with transversal hemimelia was 8.80 +/- 3.19, that of the controls 6.61 +/- 2.73. The difference was statistically significant (P < 0.001).

Bilateral hindlimb adactyly in an adult cat.

Adactyly (terminal transverse hemimelia) is a rare condition in the cat. The clinical and radiographic findings in a one-year-old cat with bilateral hindlimb adactyly are described. The cat was treated conservatively and appeared to cope well with its deformity.

Bilateral tibial agenesis and syndactyly in a cat.

CASE DESCRIPTION: A three-year-old cat was referred to the Veterinary Teaching Hospital, University of Naples, Italy. The cat had severe pelvic limb deformity, and abnormal development of all four paws. CLINICAL FINDINGS: Radiographs revealed bilateral tibial agenesis, syndactyly, and digital hypoplasia. TREATMENT AND OUTCOME: No treatment was instituted because of the severity of the injury, the adaptation of the cat to the abnormal condition, and the owner's refusal to permit any treatment. CLINICAL RELEVANCE: Congenital limb deformities are rarely reported in the cat and tibial agenesis is considered a very rare disease. This congenital anomaly is well documented and classified in man, and it has been associated with other abnormalities in more complex syndromes. This paper reports clinical and radiographic findings in a cat affected by bilateral complete tibial agenesis associated with other congenital anomalies.

A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle.

Aristaless-like homeobox 4 (ALX4) gene is an important transcription regulator in skull and limb development. In humans and mice ALX4 mutations or loss of function result in a number of skeletal and organ malformations, including polydactyly, tibial hemimelia, omphalocele, biparietal foramina, impaired mammary epithelial morphogenesis, alopecia, coronal craniosynostosis, hypertelorism, depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, and body agenesis. Here we show that a complex skeletal malformation of the hind limb in Galloway cattle together with other developmental anomalies is a recessive autosomal disorder most likely caused by a duplication of 20 bp in exon 2 of the bovine ALX4 gene. A second duplication of 34 bp in exon 4 of the same gene has no known effect, although both duplications result in a frameshift and premature stop codon leading to a truncated protein. Genotyping of 1,688 Black/Red/Belted/Riggit Galloway (GA) and 289 White Galloway (WGA) cattle showed that the duplication in exon 2 has allele frequencies of 1% in GA and 6% in WGA and the duplication in exon 4 has frequencies of 23% in GA and 38% in WGA. Both duplications were not detected in 876 randomly selected German Holstein Friesian and 86 cattle of 21 other breeds. Hence, we have identified a candidate causative mutation for tibial hemimelia syndrome in Galloway cattle and selection against this mutation can be used to eliminate the mutant allele from the breed.

Induction of mortality and malformation in Xenopus laevis embryos by water sources associated with field frog deformities.

Water samples from several ponds in Minnesota were evaluated for their capacity to induce malformations in embryos of Xenopus laevis. The FETAX assay was used to assess the occurrence of malformations following a 96-hr period of exposure to water samples. These studies were conducted following reports of high incidences of malformation in natural populations of frogs in Minnesota wetlands. The purpose of these studies was to determine if a biologically active agent(s) was present in the waters and could be detected using the FETAX assay. Water samples from ponds with high incidences of frog malformations (affected sites), along with water samples from ponds with unaffected frog populations (reference sites), were studied. Initial experiments clearly showed that water from affected sites induced mortality and malformation in Xenopus embryos, while water from reference sites had little or no effect. Induction of malformation was dose dependent and highly reproducible, both with stored samples and with samples taken at different times throughout the summer. The biological activity of the samples was reduced or eliminated when samples were passed through activated carbon. Limited evidence from these samples indicates that the causal factor(s) is not an infectious organism nor are ion concentrations or metals responsible for the effects observed. Results do indicate that the water matrix has a significant effect on the severity of toxicity. Based on the FETAX results and the occurrence of frog malformations observed in the field, these studies suggest that water in the affected sites contains one or more unknown agents that induce developmental abnormalities in Xenopus. These same factors may contribute to the increased incidence of malformation in native species.

Radiological findings in three cases of paraxial radial hemimelia in goats.

Hemimelia is a congenital abnormality characterized by the absence of a portion of the normal structures in a limb. Hemimelia is classified as transversal and paraxial and is related to genetical and environmental factors. This article shows the radiological findings observed in three different cases of paraxial hemimelia occurred in goats (radial agenesia, absence of the portion of the distal epiphysis of the radius and anomalous radius with ulnar hypoplasia). Possible causes related to these abnormalities are discussed.

Ectromelia in Morelet's crocodile from Belize.

Two Morelet's crocodiles (Crocodylus moreletii) captured on 21 March 1997 and 20 April 1998 in the New River system, Belize exhibited ectromelia of one forelimb. External and radiograph examination appears to indicate limb agenesis of unknown etiology, as there is no apparent scarring or skeletal trauma. These two individuals represent the only cases of missing limbs from 642 individuals captured in this study and to our knowledge, the first reported cases in Morelet's crocodile. Several factors including age and diet of the reproducing female, extremes in nest conditions (egg incubation temperature and humidity), and exposure to environmental contaminants can cause developmental abnormalities in crocodilians and may have contributed to the condition observed in these animals. Survival rates for hatchling crocodilians are generally low, and embryonic malformations such as ectromelia may constitute an added disadvantage to survival. However, both individuals examined in this study were vigorous and appeared in good condition.

Hindlimb deformities (ectromelia, ectrodactyly) in free-living anurans from agricultural habitats.

High prevalences of hindlimb deformities were recorded in wild-caught green frogs (Rana clamitans), northern leopard frogs (Rana pipiens), American toads, (Bufo americanus), and bullfrogs (Rana catesbeiana) from agricultural sites exposed to pesticide runoff in the St. Lawrence River Valley of Québec, Canada, between July and September 1992 and 1993. Of 853 metamorphosing anurans examined in 14 farmland habitats, 106 (12%; range 0 to 69%) had severe degrees of ectromelia and ectrodactyly, compared to only two (0.7%; range 0 to 7.7%) of 271 in 12 control sites. However, the variation in the proportion of deformities among sites was too large to conclude that there was a significant difference between control and pesticide-exposed habitats. Clinical signs varied and were characterized by segmental hypoplasia or agenesis of affected limbs. Conspicuous abnormalities interfered with swimming and hopping, and likely constituted a survival handicap. Because of circumstances and the frequency of these malformations in nine distinct habitats, and in three different species from one of our study sites, we propose a teratogenic action of exogenous factors. Despite the fact that many biotic and abiotic agents are potentially harmful to limb development, agricultural contaminants were suspected as primary aggressors. Thus, clinical examination and frequency of deformities in anurans might be an economical screening tool to assess ecosystem health and the presence of environmental contaminants.

Hemimelia and low marking percentage in a flock of Merino ewes and lambs.

Hemimelia at a prevalence of 11% of lambs marked, and low marking percentage (51%) was observed in a flock of mixed age Merino ewes and their lambs. Hemimelia occurred in one or 2 limbs of affected lambs. Lambs from other flocks on the farm were unaffected, and the condition was not reported from other farms. The condition had not occurred in the past, and has not recurred. No infectious or hereditary factors were implicated in the aetiology of the condition. Grazing Western Australian Blue Lupin stubble by the affected flock during and after joining was the only known difference between this flock and others on the farm.

Agenesia en gatos domésticos: estudio retrospectivo diagnóstico en el HCV-UFPEL / Agenesis in domestic cats: diagnostic retrospective study in HCV-UFPEL / Agenesia em felinos domésticos: estudo retrospectivo de diagnóstico no HCV-UFPEL

La hemimeliao agenesia es una anomalía que se caracteriza por la ausencia parcial o completa de uno o más huesos, y se considera de ocurrencia poco frecuente en la clínica veterinaria felina. En este sentido, el estúdio tiene como objetivo informar la existencia de hemimelia en los gatos tratados en el Hospital Clínico Veterinario (HCV-UFPel) enlos últimos diezaños. En este estúdio estan incluyos nueve gatos, de tres camadas, que ingresarónal servicio clínico y radiológico entre 2003 y 2013. Los animales presentaban deformidades en las extremidades de los miembros anteriores, cambios que se ha observado desde el nacimiento. El examen radiográfico revelo la ausencia total y o parcial del radio y distintos grados de curvatura del cúbito. Entre lãs opciones de tratamiento disponibles, los propietarios optaron por no hacer procedimiento quirúrgico, realizando así el tratamiento conservador. Con los resultados obtenidos se concluyó que la agenesia de huesos en felinos no estan rara en nuestra región, y que con el diagnóstico temprano, el conocimiento del propietario y la instituición de un plan terapêutico correcto pueden mejorarel pronóstico y lacalidad de vida de los animales afectados.(AU)

The hemimelia or agenesis is an anomaly characterized by partial or complete absence of one or more bones, and is considered a rare occurrence in feline veterinary clinic. In this sense, the study aims to report the occurrence of hemimelia in cats treated at the Veterinary Clinical Hospital (HCV-UFPel) in the last ten years. The present study includes nine cats, belonging to three different litters, which were referred to clinical and radiological service between the years 2003 and 2013. The animals had deformities at the end of the forelimbs, and these malformations were observed from birth. Radiographic examination revealed total or partial absence of radius with varying degrees of curvature of the ulna. Among available treatment options, owners opted out of surgical procedures, performing thus conservative therapy administration. With the obtained results, it was concluded that feline bone agenesis is not so rare in our region. In addition, early diagnosis, owner guidance and appropriate therapeutic institution can improve the prognosis and life quality of affected animals.(AU)

A hemimelia ou agenesia é uma anomalia que se caracteriza pela ausência parcial ou total de um ou mais ossos, sendo considerada de rara ocorrência na clínica veterinária felina. Nesse sentido, o estudo objetiva relatar a ocorrência de hemimelia em felinos atendidos no Hospital de Clínicas Veterinária (HCV-UFPel) nos últimos dez anos. No presente estudo constam nove felinos, pertencentes a três ninhadas, os quais foram encaminhados para atendimento clínico e radiológico entre os anos de 2003 e 2013. Os animais apresentavam deformidades na extremidade dos membros torácicos, sendo essas alterações observadas desde o nascimento. O exame radiográfico revelou ausência total eou parcial do rádio com diferentes graus de encurvamento da ulna. Dentre as opções terapêuticas disponíveis, os proprietários optaram pela não realização de procedimentos cirúrgicos, realizando-se dessa forma conduta terapêutica conservativa. Com os resultados obtidos concluiu-se que a agenesia óssea felina, não é tão rara em nossa região, sendo que o diagnóstico precoce, a orientação do proprietário e instituição de terapêutica adequada pode melhorar o prognóstico e qualidade de vida dos animais afetados.(AU)

Agenesia en gatos domésticos: estudio retrospectivo diagnóstico en el HCV-UFPEL / Agenesis in domestic cats: diagnostic retrospective study in HCV-UFPEL / Agenesia em felinos domésticos: estudo retrospectivo de diagnóstico no HCV-UFPEL

La hemimeliao agenesia es una anomalía que se caracteriza por la ausencia parcial o completa de uno o más huesos, y se considera de ocurrencia poco frecuente en la clínica veterinaria felina. En este sentido, el estúdio tiene como objetivo informar la existencia de hemimelia en los gatos tratados en el Hospital Clínico Veterinario (HCV-UFPel) enlos últimos diezaños. En este estúdio estan incluyos nueve gatos, de tres camadas, que ingresarónal servicio clínico y radiológico entre 2003 y 2013. Los animales presentaban deformidades en las extremidades de los miembros anteriores, cambios que se ha observado desde el nacimiento. El examen radiográfico revelo la ausencia total y o parcial del radio y distintos grados de curvatura del cúbito. Entre lãs opciones de tratamiento disponibles, los propietarios optaron por no hacer procedimiento quirúrgico, realizando así el tratamiento conservador. Con los resultados obtenidos se concluyó que la agenesia de huesos en felinos no estan rara en nuestra región, y que con el diagnóstico temprano, el conocimiento del propietario y la instituición de un plan terapêutico correcto pueden mejorarel pronóstico y lacalidad de vida de los animales afectados.

The hemimelia or agenesis is an anomaly characterized by partial or complete absence of one or more bones, and is considered a rare occurrence in feline veterinary clinic. In this sense, the study aims to report the occurrence of hemimelia in cats treated at the Veterinary Clinical Hospital (HCV-UFPel) in the last ten years. The present study includes nine cats, belonging to three different litters, which were referred to clinical and radiological service between the years 2003 and 2013. The animals had deformities at the end of the forelimbs, and these malformations were observed from birth. Radiographic examination revealed total or partial absence of radius with varying degrees of curvature of the ulna. Among available treatment options, owners opted out of surgical procedures, performing thus conservative therapy administration. With the obtained results, it was concluded that feline bone agenesis is not so rare in our region. In addition, early diagnosis, owner guidance and appropriate therapeutic institution can improve the prognosis and life quality of affected animals.

A hemimelia ou agenesia é uma anomalia que se caracteriza pela ausência parcial ou total de um ou mais ossos, sendo considerada de rara ocorrência na clínica veterinária felina. Nesse sentido, o estudo objetiva relatar a ocorrência de hemimelia em felinos atendidos no Hospital de Clínicas Veterinária (HCV-UFPel) nos últimos dez anos. No presente estudo constam nove felinos, pertencentes a três ninhadas, os quais foram encaminhados para atendimento clínico e radiológico entre os anos de 2003 e 2013. Os animais apresentavam deformidades na extremidade dos membros torácicos, sendo essas alterações observadas desde o nascimento. O exame radiográfico revelou ausência total eou parcial do rádio com diferentes graus de encurvamento da ulna. Dentre as opções terapêuticas disponíveis, os proprietários optaram pela não realização de procedimentos cirúrgicos, realizando-se dessa forma conduta terapêutica conservativa. Com os resultados obtidos concluiu-se que a agenesia óssea felina, não é tão rara em nossa região, sendo que o diagnóstico precoce, a orientação do proprietário e instituição de terapêutica adequada pode melhorar o prognóstico e qualidade de vida dos animais afetados.

Bilateral radial hemimelia and multiple malformations in a kitten.

Hemimelia is a congenital disease of complete or partial absence of one or more bones. The most important hypothesis is that radial agenesis is a consequence of neural crest injury. Treatment selection depends on the degree of the deformity and the reduction of limb function. This report describes a case of bilateral radial hemimelia and multiple malformations in a kitten aged 2 months treated conservatively with splint bandage, until bone maturity. The re-evaluation was performed 4 years later.

Transverse terminal humeral bilateral hemimelia in a dog case report / Hemimelia transversa terminal umeral bilateral em um cão relato de caso

Hemimelia is a rare congenital anomaly, characterized by the absence of a part or the whole distal segment of a body member. It is usually unilateral and is classified according to the affected bone segments. In the transverse terminal hemimelia, there is the absence of the whole distal part of a body member, what is defined as congenital amputation. Several studies about cats and dogs concluded that radial hemimelia is the most usual. However, other types of this anomaly are rarely observed in dogs. Therefore, the aim of this study is to report a case of transverse terminal humeral bilateral hemimelia in a mixed-breed dog. In the physical exam was observed a bilateral malformation of the thoracic members. The radiographs revealed the presence of a well-developed scapula, humeral vestiges and the absence of other appendicular segments on the right and left antimeres, what made the hemimelia diagnosis possible. Consanguinity was the probable cause of the anomaly. Because of the scarcity of scientific reports about this pathology in dogs, further studies are needed to investigate the here observed.(AU)

Hemimelia é uma rara anomalia congênita caracterizada pela ausência de parte ou todo o segmento distal de um membro, de ocorrência geralmente unilateral e classificada de acordo com os segmentos ósseos afetados. Na hemimelia transversa terminal toda a porção distal de um membro está ausente, sendo definida como amputação congênita. Diversos estudos em cães e gatos reportam a hemimelia radial, sendo esta a forma mais frequente. Não obstante, raras são as abordagens em cães acerca das demais apresentações da hemimelia. Assim, este estudo objetiva relatar um caso de hemimelia transversa terminal umeral bilateral em um cão mestiço. No exame físico, observou-se má formação dos membros torácicos. As imagens radiográficas revelaram nos antímeros direito e esquerdo a presença de escápula desenvolvida, resquícios umerais e ausência dos demais segmentos apendiculares, permitindo assim o diagnóstico de hemimelia. Como causa provável constou apenas o fator de consanguinidade. Devido escassez de abordagens científicas acerca deste tipo de patologia em cães, demais estudos são necessários para investigar o aqui observado.(AU)