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Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. [1] It occurs at a rate of approximately one per 60,000 live births. [2]
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls ( macrocephaly ) than is normal for their age.
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2]
Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. [3] Functional disorders include metabolic and degenerative disorders. [3] Some birth defects include both structural and functional disorders. [3]
Proteus syndrome is a rare disorder with a genetic background [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic ...
Since the syndrome is due to the accumulation of chloramphenicol, the signs and symptoms are dose related. [10] According to Kasten's review published in the Mayo Clinic Proceedings, a serum concentration of more than 50 μg/mL is a warning sign, [10] while Hammett-Stabler and John states that the common therapeutics peak level is 10-20 μg/mL and is expected to achieve after 0.5-1.5 hours of ...
When the disorder is detected (usually before or soon after birth), prostaglandin will be temporarily used as soon as possible to keep the ductus arteriosus open for as long as possible until surgery can be done, this is done so that blood can keep flowing to the lungs, since the bodies of babies with pulmonary atresia usually use the ductus ...