Author: Heo, Ju Sun; Choi, Ka Young; Sohn, Se Hyoung; Kim, Curie; Kim, Yoon Joo; Shin, Seung Han; Lee, Jae Myung; Lee, Juyoung; Sohn, Jin A; Lim, Byung Chan; Lee, Jin A; Choi, Chang Won; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il; Choi, Jung-Hwan
Title: A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth Document date: 2012_11_23
ID: 5b6z7cqx_9
Snippet: At birth, she was noted to be small for her gestational age with a birth weight of 1.69 kg (<3rd percentile); birth length, 45 cm (3rd to 10th percentile); and head circumference, 29 cm (<3rd percentile). She had coarse facial features, such as a flat midface, broad and depressed nasal bridge, long philtrum, prominent mouth, and gingival hypertrophy. The shallow orbits, thick skin, and full cheeks contributed to the appearance of deep infraorbita.....
Document: At birth, she was noted to be small for her gestational age with a birth weight of 1.69 kg (<3rd percentile); birth length, 45 cm (3rd to 10th percentile); and head circumference, 29 cm (<3rd percentile). She had coarse facial features, such as a flat midface, broad and depressed nasal bridge, long philtrum, prominent mouth, and gingival hypertrophy. The shallow orbits, thick skin, and full cheeks contributed to the appearance of deep infraorbital creases (Fig. 1) . Skeletal abnormalities such as claw hands, short upper extremities, arthrogryposis of both wrists, contracture of both hip and knee joints, bowing of both tibiae, and clubfeet were observed (Fig. 2 ). In addition, she had thickened skin and thin, golden-colored hair.
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