Barber Say Syndrome

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Barber Say Syndrome

Case of a 14-year-old with a multiple congenital anomaly pattern.

This article describes the case of a 14 year-old diagnosed with Barber Say syndrome. Her medical history revealed that she was the last of eight otherwise healthy siblings. She was was the eighth child of nonconsanguineous parents; her mother was 41, whereas father 42 years old when the child was born. There was no significant family history. The pregnancy and delivery were both normal and the child was born at a healthy weight of 3400 g and length 50 cm.

Physical examination

The patient’s physical examination was remarkable of severe hirsutism of the back, redundant thick skin, helix agenesis of both ears, macrostomia, telecanthus, hypertelorism and ablepharon. Although, there were no signs of any visceral abnormalities during the neonatal period.

Doctors evaluated the patient at the age of 13. She showed normal mental development. Her anthropometric measurement were recorded as height, 147.5 cm (10th percentile); weight, 37.4 kg (15th percentile), and head circumference, 52.2 cm (40th percentile). Further examination showed a redundant frontal skin with dark thick hair. In addition, her external auditory canals were narrow and tortuous, her ears were low set small with a prominent antihelix. Examination showed prognatism, macrostomia with thin lips, bulbous nose with anteverted nares, telecanthus, hypertelorism, sparse eyebrows and eyelashes, ectropion, ablepharon and an aged appearance.

Hirsutism of the forehead, neck and back were also evident. Skin over the patient’s chest was atrophic with atrophic nipples. Further examination did not reveal any significant findings.

Barber Say syndrome

Barber Say syndrome is a rare condition which presents with symptoms of excessive hair growth and atrophic skin. There are only 20 cases in medical literature. The present

ation, however, varies depending on the severity of the case.

References

BARBER-SAY SYNDROME: FURTHER DELINEATION OF THE CLINICAL SPECTRUM http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003

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Dr. Aiman Shahab is a dentist with a bachelor’s degree from Dow University of Health Sciences. She is an experienced freelance writer with a demonstrated history of working in the health industry. Skilled in general dentistry, she is currently working as an associate dentist at a private dental clinic in Karachi, freelance content writer and as a part time science instructor with Little Medical School. She has also been an ambassador for PDC in the past from the year 2016 – 2018, and her responsibilities included acting as a representative and volunteer for PDC with an intention to make the dental community of Pakistan more connected and to work for benefiting the underprivileged. When she’s not working, you’ll either find her reading or aimlessly walking around for the sake of exploring. Her future plans include getting a master’s degree in maxillofacial and oral surgery, settled in a metropolitan city of North America.

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