Characterized by an aged appearance at birth, prenatal
and postnatal growth retardation, and subcutaneous lipoatrophy with abnormal
deposits of fat around the buttocks, the anogenital area, and the flanks.
Characteristic craniofacial abnormalities (frontal and parietal bossing)
leading to a pseudohydrocephalus aspect.
Neonatal Progeroid Syndrome; Neonatal
Pseudo-Hydrocephalic Progeroid Syndrome of Wiedemann-Rautenstrauch;
This medical entity was first described in 1979 by Hans-Rudolf Wiedemann,
a German physician and Thomas Rautenstrauch, a German pediatrician, who described two cases
of progeria in neonates in 1977.
Progeroid appearance at birth and during infancy.
Patients have premature aging aspect, short
stature and a poorly muscled build. Clinical features can involve the central nervous system (CNS)
(psychomotor development deficiency, hypotonia, truncal ataxia, intention
tremor, and nystagmus), head and neck (pseudohydrocephaly and apparent macrocephaly,
small face, prognathism, micrognathia, microstoma, low-set ears, high
forehead, decreased eyebrows, sparse hair, sparse eyebrows, sparse
eyelashes, prominent scalp veins, entropion, greatly widened anterior
fontanelles, malar hypoplasia, natal teeth, and beaking of the nose). Other
possible features include congenital heart defect, dysphagia, urinary
reflux, generalized lipoatrophy, abnormally placed nipples, arachnodactyly,
and restricted joint mobility.
Assessment of airway must be evaluated in view of
craniofacial abnormalities (clinical, radiographs, fiberoptic if necessary).
Evaluate congenital heart defect (clinical, ECG, echocardiography). Risk of pulmonary
aspiration and respiratory tract infections is significant. Ensure adequate hydration.
Possible difficulties with direct laryngoscopy and tracheal
intubation. Risk of intracranial hemorrhage. Careful temperature control
(general absence of subcutaneous fat) and intraoperative positioning
(restricted joint mobility) are needed.
Antibiotic prophylaxis in cases of
cardiac defect. Muscle relaxants should be used after airway is secured.
Progeria Syndrome: A very rare
disorder of childhood. It is characterized by accelerated premature aging,
short stature, and characteristic facial features. Severe cardiopulmonary
problems (including myocardial infarction in early age) must be carefully
considered. Various orthopedic and orthorhinolaryngological problems are
De Barsy Moens Diercks Syndrome (De Barsy Syndrome;
Progeroid Syndrome of De Barsy; Corneal Clouding Cutis Laxa Mental
Retardation Syndrome): A rare autosomal recessive disorder. The main
characteristics are the severe cutis laxa, athetosis, cloudy corneas of the
eyes, large prominent ears, and hypotonia. Other features include
hyperextensibility of the joints, frontal bossing, and/or short stature.
Significant skin wrinkling.
Werner Syndrome: Premature aging disease that
begins in adolescence or early adulthood. With short stature, bilateral
cataracts, scleroderma-like skin changes, premature graying or loss of hair
and malignancies predisposition. Main risks are atheroma with cardiovascular
and neurological complications.
Hallerman-Streiff Syndrome: Characterized by the presence of
microcephaly and brachycephaly, frontal bossing, hypoplastic mandible, a
“beak-shaped” nose and microstomia. The disorder is also characterized by
dwarfism, ocular abnormalities (microphthalmia), congenital cataracts,
nystagmus, strabismus, and decreased visual acuity. Dental defects are
present. Individuals affected by this disorder typically have a normal
intelligence. It is ...