A very rare, autosomal recessive, severe,
polymalformative disease in which skeletal anomalies can involve the whole
Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome;
SC-Pseudothalidomide Syndrome; SC Syndrome.
Genetic disorder that is likely allelic with Roberts
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 ...