Skip to main content
SpringerLink
Log in

The radiological features of Goltz syndrome: Focal dermal hypoplasia

A report of two cases

  • Articles
  • Published:
Skeletal Radiology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Beganovic N, Lommen EVP (2977) A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects. Acta Paediatr Scand 66:255

    Google Scholar 

  2. Ginsburg LD, Heddie O, Sedano DDS, Gorlin RJ (1970) Focal dermal hypoplasia syndrome. A J R 110:561

    Google Scholar 

  3. Goltz RW, Peterson NC, Gorlin RJ, Ravits HG (1962) Focal dermal hypoplasia. Arch Dermatol 86:708

    Google Scholar 

  4. 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

    Google Scholar 

  5. 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

    Google Scholar 

  6. Knockaert D, Dequecker J (1979) Osteopathia striata and focal dermal hypoplasia. Skeletal Radiol 4:223

    Google Scholar 

  7. 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

    Google Scholar 

  8. 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

    Google Scholar 

  9. Warburg M (1970) Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. Acta Ophthalmol (Copenh) 48:525

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The Department of Paediatric Radiology, The Hospital for Sick Children, London, England

    A. E. Boothroyd F.R.C.R. & Christine M. Hall F.R.C.R.

Authors
  1. A. E. Boothroyd F.R.C.R.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christine M. Hall F.R.C.R.
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00364045

Key words

Search

Navigation