A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

Steven V. Lord, Joaquin E. Jimenez, Zachary A. Kroeger, Cory S. Patrick, Isalis Sanchez-Pena, Edward Ziga, Guney Bademci, Mustafa Tekin

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The patient was born at 25 5/7 weeks of gestation to a 25-year-old mother and a 26-year-old father. The parents are healthy, African American, and denied consanguinity. Prenatal history was unremarkable until dilated and short cervix was noted at 25 weeks by ultrasound. Nonreassuring fetal heart tracing resulted in delivery though cesarean section. She was admitted to the neonatal ICU, required intubation for 4 days, and oxygen supplementation through nasal cannula for 3 months until discharge. During this time, she was noted to have abnormal posturing and limited pronation and supination of forearms bilaterally. Radiographs showed radioulnar synostosis (Fig. 1). She developed amegakaryocytic thrombocytopenia during early infancy, requiring weekly platelet and monthly packed red blood cell transfusions. The patient presented to our institution for bone marrow transplant evaluation at 6 months of age. Clinical genetics consultation was requested because of features including epicanthal folds, short philtrum, overlapping fingers, and acetabular dysplasia (Fig. 1). Features related to prematurity were noted, including bronchopulmonary dysplasia, retinopathy of prematurity, patent foramen ovale with mild pulmonary stenosis, and bilateral nephrocalcinosis. Bone marrow transplant was performed at 9 months of age, after which the patient's condition stabilized. The transplant was complicated by grade 1 mucositis and cutaneous graft versus host disease, which resolved with treatment. The patient is meeting milestones when corrected for prematurity and is doing well at 15 months. She maintains limited elbow pronation and supination, overlapping fingers, and diminished extension at the interphalangeal joints of the middle fingers (Fig. 1). Radiographs at 21 months showed bilateral bowing and overlapping proximal ulna and radius with dysplastic appearance of the proximal radial metaphysis. There is fusion of the partially ossified right capitate and hamate and questionable fusion of the same carpal bones on the left (Fig. 1). Hearing tests performed in office showed no evidence of sensorineural or conductive hearing loss.

Original languageEnglish (US)
Pages (from-to)9-11
Number of pages3
JournalClinical Dysmorphology
Issue number1
StatePublished - 2018

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)


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