A brachymelic primordial disproportionate dwarfism
associated with facial dysmorphism and neurologic impairment.
Microcephalic Osteodysplastic Primordial Dwarfism, Type
I and III (MOPD I and III); Brachymelic Primordial Dwarfism; Taybi-Linder Syndrome (MOPD I);
Low-Birth-Weight Dwarfism with Skeletal Dysplasia.
Approximately 22 cases have been
described. Autosomal recessive. Parental consanguinity has been reported for
Some features are shared with those of
Seckel Syndrome, however, dwarfism in MOPD I and III is disproportionate.
Type I is characterized by short and bowed long bones. Typical findings in
type III include elongated clavicles, cleft cervical vertebral arches,
lumbar platyspondyly, enlarged metaphyses, and marked dysplasia of the
pelvis. However, MOPD type I and III now are accepted as variants of the
Severe intrauterine (with oligohydramnios) and postnatal growth retardation
are almost always present. The disease may affect head and neck
(microcephaly, closed anterior fontanelle at birth, prominent occiput,
sloping forehead, low-set and dysplastic ears, large protruding eyes,
strabismus, big, prominent nose, mandibular hypoplasia, high vaulted narrow
palate, unilateral choanal atresia, short neck), the urogenital tract
(micropenis, cryptorchidism, obstructive hydronephrosis), the skeleton (hip
dislocation, joint flexion deformities, flexion contractures in the big
joints, short limbs, brachydactyly, clinodactyly of the fifth digit, delayed
bone age, abnormal vertebral size and shape [cervical clefts,
platyspondyly], flared iliac wings, shallow acetabula, delayed metaphyseal
maturation, bowed femurs and humeri) and the central nervous system (delayed
psychomotor development, seizures, micrencephaly, corpus callosum agenesis,
gyral anomalies, enlarged lateral ventricles, hypoplastic cerebellum and
frontal lobes, agenesis of the cerebellar vermis, heterotopias). Other
features include alopecia, dry skin, bilateral simian creases, and decreased
sweating. Tetralogy of Fallot and renal leakage have been described in one
case. This disease is generally lethal within the first year of life. The
oldest survivor died at 6.5 years of age. The recorded causes of death are most
often infections, such as meningitis, meconium peritonitis, aphthous
stomatitis, sepsis, and airway infections with pneumonia.
Anesthesia in this condition has not
been described. Renal function should be assessed if hydronephrosis is
present. The features of the disease suggest that mask ventilation and
direct laryngoscopy may be difficult. Given the possible anomalies of the
cervical spine, tracheal intubation should be performed in a way that forced
reclination of the head is avoided. Decreased sweating may lead to abnormal
thermoregulation in the perioperative period. Joint contractures may make
patient positioning difficult. Central neuraxial anesthesia is not
contraindicated, but may be difficult secondary to anatomical anomalies and
difficulties with positioning. Patients are predisposed to seizures. Avoid
drugs that lower the seizure threshold. Anticonvulsant medications and renal
failure may alter the metabolism and excretion of some anesthetic agents.
Cerebro-Oculo-Skeleto-Renal Syndrome: A congenital syndrome combining
dwarfism and ocular, cerebral, and renal symptoms. Lethal in infancy.
Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II:
Approximately 20 cases have been described. Inheritance is autosomal
recessive, with parental consanguinity being a causative factor ...