Poster Presentations

Two Siblings with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)

  • Emregül Işık
  • Andrew Jackson

J Clin Res Pediatr Endocrinol 2017;9(1):10-10

We aimed to identify the genetic cause of severe short stature and microcephaly in two siblings.

A ten-year-old boy presented with short stature. He was born with a birth weight of 1300 grams (-2.7 SDS) at 34 weeks of gestational age. On physical examination, height was 86 cm (-8.9 SDS), weight 8.4 kg (-7.9 SDS), BMI 11.4 kg/m2 (-5.6 SDS), and head circumference was 37.7 cm (-9.1 SDS). Development was delayed. He started walking at 3 years, speaking with single words at 2 years, and he cannot make sentences yet. He had prominent nose, microcephaly, micrognathia, and microdontia. There were areas of hypo- and hyperpigmentation, cutis marmorata, and few cafe au lait spots on skin. Parents were first-degree cousins. Height of father was 177.5 cm (0.2 SDS) and height of mother was 159 cm (-0.7 SDS); target height was 161.8 cm (-0.2 SDS). His sister presented at 9 months of age and her height was 50.1 cm (-7.1 SDS), weight 3.8 kg (-6.3 SDS), and head circumference was 33.5 cm (-8.1 SDS). She was born with a birth weight of 1135 grams (-2.5 SDS) at 33 weeks of gestational age. Routine laboratory tests, serum levels of free triiodothyronine, free thyroxine, thyroid-stimulating hormone, insulin-like growth factor 1, and insulin-like growth factor binding protein 3 were normal.

Genetic analysis showed homozygous pericentrin mutation c.3109G>T, p.Glu1037 in both siblings. Parents were heterozygous for this mutation.

MPOD II is characterized by severe intrauterine and postnatal growth retardation, microcephaly, and distinctive face; patients with this disorder should be screened for cerebrovascular abnormalities.