Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report / Achados oftalmológicos na displasia ectodérmica, ectrodactilia e síndrome da distrofia macular: relato de caso

ABSTRACT We report on a case of two sisters, daughters of consanguineous parents, presenting with a similar condition of low visual acuity associated with retinal dystrophy in both eyes associated with alopecia and bone alterations or syndactyly.

RESUMO Relatamos um caso de duas irmãs, filhas de pais consanguíneos, apresentando uma condição semelhante de baixa acuidade visual associado à distrofia retiniana em ambos os olhos associado à alopecia e alterações ósseas ou sindactilia.

Our experience with macrodactyly: a rare congenital anomaly

To present our experience with [Macrodactyly] a rare congenital anomaly and its associated anomalies. Macrodactyly is an increase in the size of one or several fingers or toes. The overgrowth is limited to or predominantly affects the digits. It is characterized by an increase in all mesenchymal elements particularly fibro-adipose tissue. It does not appear to be an inherited condition and is thought to be caused by abnormal nerve supply, abnormal blood supply or abnormal humeral mechanisms. Pathologically, they are benign, soft tissue growths. Macrodactyly is commonly an isolated condition but other congenital anomalies are associated with it. It can be static or a progressive disorder. Soft tissue debulking, phalangectomies, ray resection, ostetomies and arthrodesis of interphalangeal joints are different modes of treatment. Descriptive case series. This study was conducted in Plastic Surgery Unit of Hayatabad Medical Complex Peshawar and Orthopaedic unit of Khyber Teaching Hospital, Peshawar from April 2007 to December 2009. A total of 32 patients were registered during the study period. Patients were admitted through out patient department, written informed consent was obtained from all individuals. Detailed history was taken, every patients was assessed clinically and radiologically. All patients were followed for recurrence. 2 patients were lost in follow up and the study was completed on 30 patients. Mean age of the patients was 13.7 years. Out of 30 patients, 19 were male and 11 were female. Hands were involved in 20 patients and feet in 10 patients. There was no bilateral hands or feet involvement. Eighteen patients had progressive and 12 patients have static macrodactyly. Seventeen patients had isolated macrodactyly while in 13 patients macrodactyly was associated with other congenital anomalies most commonly syndactyly. Most commonly involved digit was index finger in hand and big toe in foot. Macrodactyly is a rare congenital anomaly but cosmetic and functional disability of the patient is significant. Although it is mostly isolated but a significant number of cases were associated with other congenital anomalies which necessitate further research in this field

Macrodystrophia lipomatosa

Macrodystrophia Lipomatosa is a congenital form of localized gigantism characterized by an increase in all mesenchymal elements particularly fibroadipose tissue. We describe two patients with Macrodystrophia Lipomatosa affecting the hand that exhibited characteristic radiological and MRI findings that distinguish the lesion from other conditions associated with localized gigantism

An autopsy case of Adams-Oliver syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.

An autopsy case of Adams-Oliver syndrome

We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28() weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd +ACY- 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd +ACY- 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in Korea.