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A female baby born in Nagpur, India in June 2016 died after two days. She was the first case of harlequin ichthyosis reported in India. [39] [40] [41] Hannah Betts was born with the condition in 1989 in Great Britain, and died in 2022 at 32 years old. [42] Ng Poh Peng was born in 1991 in Singapore. Doctors had not expected her to live past her ...
Almost all infants with ROP have a gestational age of 31 weeks or less (regardless of birth weight) or a birth weight of 1250 g (2.76 lbs) or less; these indications are generally used to decide whether a baby should be screened for ROP, but some centres, especially in developing countries, extend birth weight screening criteria to 1500 g (3.3 ...
[1] [7] It may also result in a musty smell and lighter skin. [1] A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. [1] Phenylketonuria is an inherited genetic disorder.
Childhood blindness encompasses multiple diseases and conditions present in ages up to 16 years old, which can result in permanent blindness or severe visual impairment over time. [2] Congenital blindness is a hereditary disease and can be treated by gene therapy .
[2] It affects about 1 in 40,000 newborns. [1] LCA was first described by Theodor Leber in the 19th century. [3] [4] It should not be confused with Leber's hereditary optic neuropathy, which is a different disease also described by Theodor Leber. One form of LCA was successfully treated with gene therapy in 2008. [5] [6] [7] [8]
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [1] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events ...
The eye develops in utero during the first three months of pregnancy, and a gap called the choroidal fissure appears at the bottom of the stalks that eventually form the eye, the AAO explains.
Medium-sized congenital melanocytic nevus is defined as having a diameter more than 2 cm (0.79 in) but less than 20 cm (7.9 in). [ 6 ] : 690 Giant congenital melanocytic nevus (also known as "bathing trunk nevus," "garment nevus," "giant hairy nevus", and "nevus pigmentosus et pilosus") is defined by one or more large, darkly pigmented and ...