Robinow syndrome: a diagnosis at the fingertips

Clin Dysmorphol. 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230.


A 1-month-old full-term female was transferred to our facility from an outside hospital for further evaluation. Pregnancy was complicated by maternal diabetes, and birth weight was 4.1 kg. She was prenatally diagnosed with hypoplastic left heart syndrome and omphalocele. Postnatally, she was found to have cleft lip and palate, two natal teeth, choanal atresia, bilateral clubfeet, and imperforate anus. Physical examination was notable for short limbs and broad, apparently duplicated distal phalanx of digits 1–2 of both hands (Fig. 1). Her facial dys-morphology included frontal bossing, malar hypoplasia, flat nasal bridge, hypertelorism, anteverted nares, and full cheeks (Fig. 2). Imaging was notable for normal-appearing uterus but no gonadal tissue on pelvic ultra-sound, as well as bifid distal phalanges of the bilateral first and second digits on hand radiographs (Fig. 3). Of her various dysmorphic features, we found her duplicated distal phalanges to be the most unique and striking feature, and searched the literature extensively for reports of similar cases, but found none at the time. Her clinical course was marked by cardiorespiratory failure requiring chronic mechanical ventilation, and she ultimately underwent tracheostomy. Throughout her life, she was dependent on tube feeding, ultimately requiring gastrostomy placement. The course was further complicated by pulmonary hypertension and apnea. She expired at 7 months of age because of apnea of unclear etiology. Family history was unremarkable.

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / physiopathology*
  • Dwarfism / diagnosis*
  • Dwarfism / physiopathology*
  • Female
  • Humans
  • Infant
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / physiopathology*
  • Urogenital Abnormalities / diagnosis*
  • Urogenital Abnormalities / physiopathology*

Supplementary concepts

  • Robinow Syndrome