Abstract
Two female infants with Goltz syndrome (focal dermal hypoplasia) were recently investigated in the Department of Radiology, The Hospital for Sick Children, Great Ormond Street for severe feeding problems and failure to thrive. Both demonstrated severe skeletal malformations and marked gastrooesophageal reflux with laxity of the hiatus. One child (case 1) exhibited nasal regurgitation during feeding. Interestingly, both children had undergone surgery; Case 1 or a right parasagittal abdominal hernia associated with focal dermal hypoplasia of the abdominal wall and Case 2 for an exomphalos also associated with dermal hypoplasia. This observation suggests a more wide-spread mesodermal abnormality.
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Beganovic N, Lommen EVP (2977) A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects. Acta Paediatr Scand 66:255
Ginsburg LD, Heddie O, Sedano DDS, Gorlin RJ (1970) Focal dermal hypoplasia syndrome. A J R 110:561
Goltz RW, Peterson NC, Gorlin RJ, Ravits HG (1962) Focal dermal hypoplasia. Arch Dermatol 86:708
Goltz RW, Henderson RR, Hitch JM, Ott JE (1970) Focal dermal hypoplasia syndrome. A review of the literature and report of 2 cases. Arch Dermatol 101:1
Joannides T, Pringle JAS, Shaw DG, Godlee JN, Kemp HB (1983) Giant cell tumour of bone in focal dermal hypoplasia. Br J Radiol 56:684
Knockaert D, Dequecker J (1979) Osteopathia striata and focal dermal hypoplasia. Skeletal Radiol 4:223
Kunze J, Heyre K, Weedman HR (1979) Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations. Eur J Paediatr 131:212
Lynch RD, Leschrer RT, Nicholis PJ, Matthews WE (1981) Focal dermal hypoplasia (Goltz syndrome) with an expansile iliac lesion. J Bone Joint Surg [Am] 634:470
Warburg M (1970) Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. Acta Ophthalmol (Copenh) 48:525
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Boothroyd, A.E., Hall, C.M. The radiological features of Goltz syndrome: Focal dermal hypoplasia. Skeletal Radiol 17, 505–508 (1988). https://doi.org/10.1007/BF00364045
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DOI: https://doi.org/10.1007/BF00364045