A combined case of amelia and phocomelia in a neonate, at JFK Maternity Center, Liberia

We report a case of spontaneous rare birth deformity. A case of Amelia and Phocomelia in a neonate. Amelia is a rare congenital disorder, even more so, is the combined amelia and phocomelia in a neonate. True Phocomelia was defined as the total absence of the intermediate segments of the limb. With the hand or foot (normal, almost normal, or malformed), directly attached to the trunk. The common aetiological association with phocomelia is from the use of thalidomide and genetic inheritance, as an autosomal recessive trait, involving chromosome 8. Isolated amelia is not generally considered to be of genetic origin. We present a neonate delivered by a 28-years multipara in Liberia, in West Africa Sub-Region, with amelia involving the two upper limbs, right lower limb and a Phocomelia involving the left lower limb (absence of tibia and fibula and feet with three toes). Africa is the only continent not included in the International Clearinghouse for Birth Defects Surveillance and Research. It is hoped that case reports of congenital limb deformities from Africa, will contribute to the formation of a database for birth defects shortly.

A rare case of partial paraxial radial hemimelia in a puppy

This article reports a case of a congenital unilateral forelimb defect in a two-month-old male puppy with clinical and radiographic findings. Congenital deformities are structural or functional congenital defects arising from errors during development, and they can affect an isolated portion of the body, the complete body or parts of several systems of the body. The congenital absence of a portion of the proximal epiphysis of the radius is an extremely rare condition in human and animal species. Although similar congenital limb deformities have been infrequently reported in dogs, the present case is, to the best of the authors’ knowledge, the first report of this type of partial forelimb paraxial radial hemimelia in a puppy, and it represents an addition to the scant literature on this topic.

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

Background:Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible. We reviewed the recent available literature concerning the current methods for prenatal diagnosis of clubfoot.Methods:The following databases were searched from 1966 to 2015: PubMed, OVID, Cochrane, CINAHL, Google scholar and Embase.Results:Out of a total number of 197 retrieved articles, after abstract or title page evaluation, 158 articles not matching the inclusion criteria were excluded. The full text versions of the remaining 39 articles were obtained, and their reference lists screened, with the addition of another 5 full-text articles.Conclusions:Currently, ultrasonography is considered the most reliable method of prenatal diagnosis of clubfoot. Ultrasonographic diagnosis of clubfoot appears more likely between the 18th and the 24th week of pregnancy. Alternative imaging is not indicated. There is no agreement whether to propose foetal karyotyping when isolated clubfoot is diagnosed by prenatal ultrasonography. Early detection of clubfoot should prompt a careful surveillance during pregnancy in order to detect any possible additional abnormalities and, if any of these are detected, invasive testing should be offered.

Bilateral tibial agenesis and syndactyly in a cat

SummaryCase 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.

Congenital absence of humerus with preaxial terminal longitudinal hemimelia and hypoplasia of the scapula in a dog: a case report

A case of a unilateral forelimb congenital defect in a three-month-old female puppy dog with clinical and radiographic findings is described here. Congenital absence of humerus with preaxial terminal longitudinal hemimelia is a rare condition in human and animal species. Although similar congenital limb deformities in dogs have previously been documented, the present case is, to the authors’ knowledge, the first report of this type of forelimb hemimelia in a dog, and represents an addition to the scant literature on this topic.  

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.

Problems Encountered by a Child with Congenital Limb Deformities

This article is based on the experiences of a paediatric occupational therapist who found herself in the position of helping a child with severe congenital limb deformities. She describes the initial occupational therapy assessment and the treatment programme, which was aimed at developing independence as far as possible. The equipment used is discussed, including adaptations required at home and in school. The child has now largely adapted to his physical problems, but is emotionally very dependent on stable relationships with adults.

A structural analysis of congenital limb deformities in experimental hyperthyroid tadpoles

An experimental model for the study of hyperthyroidism in embryonic development was achieved in the local anuran larvae, Bufo melanostictus, by treatment with potassium perchlorate at a critical dose and time of embryogenesis. Phocomely-hemimely and digital deformities of fore- and hind limbs in high percentages of the population were found associated with such critically stimulated tadpoles. Similar deformities were reproduced by exogenous treatment with L-thyroxine sodium. The deformities were severely aggravated if the tadpoles had anti-thyroid treatment before critical stimulation with thyroxine in the sensitive phase of development. Incoordinate cellular differentiation in the malformed limbs was indicated histologically by undifferentiated mesenchyme in the distal extremities although the overlying ectoderm had already formed mature epidermis with specialized skin glands. The differentiated mesodermal components (muscles, cartilages and connective tissues) more proximally were afflicted with degenerative changes. Lytic spinal motor neurones and involuted Mauthner's neurones with precipitate metamorphosis were accompanying features. Embryonic thyrotoxicosis is discussed in relation to congenital deformities of limbs.