Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension

Am J Case Rep. 2019 Mar 18:20:354-360. doi: 10.12659/AJCR.912873.


BACKGROUND The pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome is a rare medical condition presumably of autosomal recessive way of inheritance with only a few reported cases. Recessive mutations in the STRA6 and both recessive and dominant mutations in RARB gene have been identified as the cause of anophthalmia/microphthalmia and other abnormalities included in the PDAC spectrum. However, those mutations have not been found in all PDAC syndrome cases reviewed from the literature. CASE REPORT We report a case of a full-term living male infant with pulmonary hypoplasia, left diaphragmatic eventration, bilateral microphthalmia, congenital cardiac defects, and severe pulmonary hypertension. CONCLUSIONS The main feature in the reported cases was anophthalmia/microphthalmia. Therefore, screening for the other associated congenital anomalies is highly suggested. Mutations in STRA6 and RARB genes are commonly encountered in this spectrum. However, whole exome sequencing of suspected cases and their parents is recommended to detect possible de novo mutations. Further reports are needed to identify risk factors and prognosis of this rare syndrome.

Publication types

  • Case Reports

MeSH terms

  • Anophthalmos / diagnosis*
  • Anophthalmos / etiology
  • Anophthalmos / surgery
  • Humans
  • Infant, Newborn
  • Lung Diseases / diagnosis*
  • Lung Diseases / etiology
  • Lung Diseases / surgery
  • Male
  • Microphthalmos / diagnosis*
  • Microphthalmos / etiology
  • Microphthalmos / surgery

Supplementary concepts

  • Anophthalmia with pulmonary hypoplasia