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At a glance

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.

Synonyms

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

History

A form of dwarfism first described by John Bingham Roberts, an American surgeon, in 1919. It has been proposed that the three medical conditions: ☞SC Phocomelia Syndrome, ☞TAR Syndrome, and Roberts Syndrome are not separate.

Genetic inheritance

Autosomal recessive trait. Affect males and females equally.

Pathophysiology

Mutations in cohesion 1 homologue 2 (ESCO2) gene on chromosome 8p21.1. Chromosome studies reported premature centromere separation, splaying the Y-chromosome heterochromatin and repulsing the short arms of the acrocentric chromosomes.

Diagnosis

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

Clinical aspects

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.

Precautions before anesthesia

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.

Anesthetic considerations

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.

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