Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type

Area of Science:

• Medical Genetics
• Pediatric Dysmorphology

Background:

• Robinow syndrome is a rare genetic disorder characterized by distinctive facial features, limb abnormalities, and growth retardation.
• It exhibits genetic heterogeneity, with dominant and recessive forms described.

Observation:

• Case 1: An 11-year-old Thai boy presented with features typical of dominant Robinow syndrome, plus newly recognized signs like communicating hydrocephalus and absent toe phalanges.
• Case 2: A newborn Caucasian girl exhibited anomalies consistent with recessive Robinow syndrome, including newly identified features such as nasal capillary hemangioma and hypoplastic metatarsals.

Findings:

• The dominant type presentation included previously undocumented manifestations such as underdeveloped sinuses, specific dental anomalies, and unique digital and scrotal features.
• The recessive type presentation included novel features like capillary hemangioma and hypoplastic fourth metatarsal bones, expanding the phenotypic spectrum.

Implications:

• These cases expand the known clinical spectrum and newly recognized signs for both dominant and recessive forms of Robinow syndrome.
• Detailed documentation of rare genetic conditions aids in improved diagnosis, genetic counseling, and understanding of disease mechanisms.