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A very rare, autosomal recessive, severe, polymalformative disease in which skeletal anomalies can involve the whole body.

Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome; SC-Pseudothalidomide Syndrome; SC Syndrome.

Genetic disorder that is likely allelic with Roberts syndrome.


Autosomal recessive inheritance.

Chromosome studies reported premature centromere separation, splaying the Y-chromosome heterochromatin and repulsing the short arms of the acrocentric chromosomes.

Association of nearly symmetrical reductive malformations of the limbs (resembling phocomelia), flexion contractures of various joints, multiple minor anomalies, intrauterine and extrauterine growth retardation, and mental retardation.

This severe polymalformative syndrome involves skeletal signs that can affect the whole body. Micrognathia and microbrachycephalic skull with wormian bones in the occipital region may occur. Hand abnormalities can include absence of the thumb, shortening of the first metacarpal bone, hypoplasia of the first digit, fusion of the fourth and fifth metacarpals, clinodactyly of the second and fifth digits, and hypoplasia of the middle phalanges, with symmetric reduction deformity (upper limbs being more severely affected than the lower ones) and flexion contractures of the joints. Other clinical features concern hypotrichosis with scanty silvery blond hair, growth and occasional mental retardation, seizures, aortic stenosis, and cloudy cornea.

Evaluate cardiac function (clinical, chest radiograph, echocardiography), neurological function (maintenance of seizure therapy), and airway (clinical, radiography).

Arterial and venous access because blood pressure can be difficult to manage as a consequence of the limb deformities. Direct laryngoscopy and tracheal intubation can be difficult because of micrognathia and skull deformation. In these conditions, it is highly recommended to maintain spontaneous respiration until trachea is intubated and lung ventilation confirmed.

Prophylactic antibiotics should be used in cases of cardiopathy. Antiepileptic treatment should be continued on day of surgery; consider interaction between epileptic and anesthetic drugs.

Holt-Oram Syndrome: Characterized by thumb anomaly and atrial septal defect, although abnormality of the upper extremities can be more extensive in some cases. The thumb may be absent or may be a triphalangeal, nonopposable, finger-like digit. This syndrome was first clearly described in 1960 by Holt and Oram who observed atrial septal defect in members of four generations of a family. Upper extremity phocomelia and ventricular septal defect have been reported in few patients.

Baller-Gerold Syndrome (Craniosynostosis with Radial Defects; Craniosynostosis-Radial Aplasia Syndrome): Characterized by the presence of craniosynostosis with radial defects. The radial anomalies consist of radial aplasia and slight ulnar hypoplasia. Other clinical features include bilateral conductive hearing loss, malformation or absence of some carpals and metacarpals, and absent or hypoplastic thumbs and other skeletal anomalies of the spine and pelvis. Short stature is always present. Anteriorly placed and imperforate anus is often present with either perineal fistula or rectovaginal fistula. Anomalies of the heart and urogenital system and mental and/or motor retardation have been noted.

Feingold M: History of C-patient with ...

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