Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia
نویسندگان
چکیده
منابع مشابه
An 18-Month-Old Boy with Decreasing Height Velocity.
An 18-month-old boy presented to our clinic for a routine well visit. His mother was concerned that, although he was cruising at age 12 months, he was still not walking or talking. He was born at 39 weeks and 5 days via cesarean delivery secondary to breech presentation. His APGAR (Appearance, Pulse, Grimace, Activity, Respiration) scores were 9 and 9 at 1 and 5 minutes, respectively. Antenatal...
متن کاملTyphoid sigmoid colon perforation in an 18-month-old boy.
BACKGROUND Typhoid fever is a severe infective disease endemic in the areas where sanitation is poor. Its serious complication is bowel perforation with terminal ileum as the commonest perforation site. We report a case of an extremely unusual site of perforation in sigmoid colon due to typhoid fever. METHODS An 18-month-old boy presented with no passage of flatus and feces along with guardin...
متن کاملFocal dermal hypoplasia.
Attention was drawn by Goltz, Peterson, Gorlin, and Ravits (1962) to a rare syndrome of multiple congenital defects affecting tissues of both mesodermal and ectodermal origin. The universal feature of their three initial cases was the skin abnormality, which consisted of areas of extremely thin or absent dermis, frequently with localized herniations of subcutaneous fat into the epidermis appear...
متن کاملFocal dermal hypoplasia (Goltz syndrome)
The Gulf Journal of Dermatology and Venereology ABSTRACT Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual feature...
متن کاملAlmost Unilateral Focal Dermal Hypoplasia
Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right le...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of American Association for Pediatric Ophthalmology and Strabismus
سال: 2014
ISSN: 1091-8531
DOI: 10.1016/j.jaapos.2013.11.015