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
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.