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Sacral dimple: incidental findings from newborn evaluation (Case Presentation)
Author(s) -
Ohashi Amiko,
Montaño Adriana M,
Colón José E,
Oguma Toshihiro,
Luisiri Atchawee,
Tomatsu Shunji
Publication year - 2009
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2009.01134.x
Subject(s) - st louis , medicine , saint , presentation (obstetrics) , general hospital , university hospital , pediatrics , emergency department , family medicine , surgery , history , art history , psychiatry
The Discussion and Diagnosis can be found on page 910. CASE A 1-day-old white boy, weight 3228 g and body length of 52.1 cm was referred to a radiologist for evaluation of a sacral dimple which was noted at delivery. Lower spine radiographs revealed suspected anterior beaking of the lumbar vertebrae (Fig. 1A) as well as minor anomalies on the phalanges that suggested a skeletal dysplasia. Subsequent radiographs (Figs. 1B and C) showed progression of the anterior beaking sign, progressive kyphosis, platyspondyly and irregularities of the vertebral bodies, which are signs characteristic of mucopolysaccharidoses (MPSs), particularly of MPS IV syndrome. Urineglycosaminoglycans (GAGs)