Roberts Syndrome

Phocomelia-like syndrome associated with mental retardation and craniofacial abnormalities, including exophthalmia. Multiple other malformations can be observed such as urogenital (cryptorchidism, enlargement of the phallus and clitoris), cardiac (atrial septal defect, ventricular septal defect), and microcephaly.

Long Bone Deficiencies Associated with Cleft Lip-Palate; Tetraphocomelia-Cleft Lip-Palate Syndrome.

A form of dwarfism first described by John Bingham Roberts, an American surgeon, in 1919.

Autosomal recessive trait. Affect males and females equally.

Premature separation of centromeric heterochromatin of many chromosomes is found in half of patients and has been evocated as a possible cause of the disease. Maternal ingestion of clonidine has also been suggested.

Clinical: association of symmetric phocomelia-like limb defects similar to those seen in thalidomide embryopathy, craniofacial abnormalities, growth retardation, and mental deficiency.

Important clinical signs can be observed at birth. This complex severe multiple congenital anomaly syndrome leads often to premature birth. There is intrauterine growth retardation (birth length <40 cm [15.7 inches], birth weight <1.5 kg [3.3 lb]). Microcephaly and mental retardation can be associated with other craniofacial anomalies (craniosynostosis hydrocephalus, encephalocele, blue sclerae, exophthalmia, and cleft palate and lip). Limb deformities include talipes varus or valgus, and symmetrical absence or hypoplasia of the radius, ulna, tibia, fibula, and femur. The joints exhibit flexion contractures, especially the knees and elbows. There may be delayed ossification of the carpal bones. Urogenital signs (enlarged penis and clitoris, cryptorchism, ambiguous genitalia, hypospadias, enlarged or cleft labia minora, septate vagina, bicornuate uterus, polycystic or horseshoe kidneys, hydronephrosis, and ureteral stenosis) may be associated with gallbladder anomalies, accessory spleen, and cardiac anomalies (atrial septal defect, ventricular septal defect, patent ductus arteriosus). Other features usually involve the skin, nails, and hair.

Evaluate cardiac function (clinical, ECG, echocardiography); neurological status (clinical, CT, transfontanellar echography, EEG); airway (clinical, radiographs); renal function (echography, biology); and spleen (echography). Laboratory investigation should include urea, kalemia, calcemia, creatinine because of renal anomalies; serum glutamic-oxaloacetic transaminase, serum glutamic-pyruvic transaminase, coagulation, bilirubin because of biliary anomalies, and platelet count because of thrombocythemia.

Direct laryngoscopy and tracheal intubation can be difficult. Maintenance of spontaneous ventilation until the trachea is intubated and ventilation confirmed is recommended. A laryngeal mask airway and fiberoptic equipment might be required. Careful intraoperative positioning is necessary because of significant malformations. Venous and arterial access can be a challenge because of the shortened and abnormal limbs. Regional anesthesia can be difficult. Platelet count should be measured before any procedures.

Prophylactic antibiotics should be used in a case of cardiac defect. Choice of anesthetic drugs should consider renal and hepatic functions. Muscle relaxants should be avoided until airway is secured and ventilation has been confirmed.

TAR Syndrome: Characterized by severe thrombocytopenia and absence or underdevelopment of the radius bones. The underdevelopment of the ulna, associated with defects of the hands, legs, and/or feet may also occur.