You are here

  • Home
  • Archive
  • Volume 40, Issue 12
  • Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype

Article Text

Article menu
Download PDFPDF
Electronic letters
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype
  1. A C Offiah1,
  2. S Mansour2,
  3. I Jeffrey2,
  4. R Nash2,
  5. N Whittock3,
  6. R Pyper4,
  7. S Bewley5,
  8. P T Clayton6,
  9. C M Hall1
  1. 1Department of Radiology, Great Ormond Street Hospital for Children, London, UK
  2. 2SW Thames Regional Genetics Service and Department of Perinatal Pathology, St George’s Hospital Medical School, London, UK
  3. 3Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
  4. 4Department of Obstetrics and Gynaecology, Worthing Hospital, Sussex, UK
  5. 5Department of Fetal Medicine, St Thomas’s Hospital, London, UK
  6. 6Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health, London, UK
  1. Correspondence to:
 Dr Sahar Mansour
 SW Thames Regional Genetics Service, St George’s Hospital Medical School, London SW17 0RE, UK; smansoursghms.ac.uk

https://doi.org/10.1136/jmg.40.12.e129

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Hydrops-ectopic calcification-motheaten (HEM) skeletal dysplasia is a rare lethal autosomal recessive skeletal dysplasia which is also known as Greenberg dysplasia.1 There are currently only seven published cases.2–4 X linked dominant chondrodysplasia punctata (Conradi–Hünermann syndrome) mainly affects females and is characterised by aberrant punctate calcification of cartilage or stippling of the epiphyses, mainly in the areas of the vertebral column, pelvis, and long bones. There is asymmetrical shortening of the long bones, patchy skin changes (follicular atrophoderma), ichthyosis, areas of alopecia, and cataracts. The severity varies from the a lethal form to a mild disease affecting adults who are sometimes diagnosed only after having an affected child.5 The variable pattern of presentation is probably related to random X inactivation, which may also explain the wide spectrum of severity.

    We report on a further case of HEM and a lethal case of X linked dominant chondrodysplasia punctata, and we highlight the similarities and differences between these two conditions, discussing the role of plasma/tissue sterol measurements in the differential diagnosis.

    CASE REPORTS

    Case 1 (JK)

    A 32 year old Caucasian woman, gravida 2, para 0, was referred for a specialist ultrasound opinion at 14 weeks’ gestation, following an earlier suspicious scan. Her partner was unrelated, 28 years old, and Caucasian. There was no relevant past or family history.

    The antenatal scan demonstrated hydrops fetalis, echogenic bowel, and extreme micromelia. The pregnancy was terminated at 14 weeks and four days.

    At post mortem, a marked reduction in total fetal body length was noted. This was the result of severe micromelia, as shown in fig 1(C). The fetus had normal female external genitalia, but a mildly dysmorphic facies with a towering forehead, mild mandibular recession, a flattened nose, and mild hypertelorism. The thorax was small, and the abdomen protuberant as a result of significant hepatomegaly. The …

    View Full Text