ROBERT’S SYNDROME

Roberts syndrome and SC phocomelia, initially thought to represent two separate syndromes are now generally accepted as variants of the same condition: Roberts-SC phocomelia (1,2).

• Autosomal recessive.
• Is associated with premature centromere separation and puffing (3).

ULTRASOUND

• Limb malformations.
• Shortening or absence.
• Usually symmetric.
• More severe in the upper than in the lower limbs (4).
• Facial hemangiomas.
• Hypoplastic nasal alae.
• Other anomalies include midfacial clefting, hypertelorism, ocular proptosis and microcephaly.
• Neural tube defects and renal anomalies have been reported (5).
• Cystic hygroma has been reported on one occasion (2).
• Has been diagnosed as early as 10 weeks (6).

Affected patients also have silvery blond hair.

Robert’s Syndrome

Absent upper limb bones (humerus, radius, ulnar) with hands arising from shoulder joint.

REFERENCES

1. Romke C, Froster-Iskenius U, Heyne K et.al. Roberts syndrome and SC phocomelia. A single genetic entity. Clin Genet 1987;31:170.
2. Trombly JF, Yeomans ER, Lester JW. Diagnosis of phocomelia by transvaginal sonography. J Ultrasound Med 1992;11:309-311.
3. Thompkins D, Hunter A, Roberts M. Cytogenetic findings in Roberts-SCphocomelia syndrome. Am J Med Genet 1979;4:17-26.
4. Freeman MVR, Williams DW, Schimke RN et.al. The Roberts syndrome. Clin Genet 1974;5:1.
5. Hermann J, Opitz JM. The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr 1977;125:117.
6. Otano L, Matayoshi T, Lippold S et.al. Roberts syndrome: first trimester prenatal diagnosis by cytogenetics and ultrasound in affected and non-affected pregnancies. Am J Hum Genet 1993;53:1445.