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Progeroid syndrome Petty type

Overview

A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies

Symptoms - Progeroid syndrome Petty type

* Absent fingernails * Small fingernails * Brittle hair * Broad forehead * Absent teeth * Abnormal dermatoglyphics * Retarded fetal growth * Increased body hair * Everted lower lip * Epicanthic folds * Long lashes * Loose skin * Large fontanel * Low set ears * Poor skull calcification * Protruding jaw * Prematurely aged face * Short stature * Small face * Underdeveloped end bones of fingers * Thick eyebrows * Umbilical hernia * Shagreen patch * Reduced fat under skin

Causes - Progeroid syndrome Petty type

* Hypothyroidism –Primary congenital hypothyroidism occurs in 1/4,000 live births, more in females (2:1) –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism –Physical findings include prolonged jaundice, macroglossia, doughy skin, umbilical hernia, weak hoarse cry, hypotonia, poor feeding, sparse hair, dry skin, constipation, abdominal distension, poor growth, developmental delay, slow deep-tendon reflexes, broad flat nose –Acquired hypothyroidism is most commonly due to iodine deficiency or chronic autoimmune thyroiditis * Increased intracranial pressure –Usually accompanied by increased head circumference –Hydrocephalus –Trauma –Acute CNS infections (meningitis or encephalitis) * Skeletal dysplasias –Rickets –Achondroplasia –Osteogenesis imperfecta * Genetic/chromosomal disorders –Down syndrome (trisomy 21): Associated with mental retardation, hypotonia, epicanthal folds, slanted palpebral fissures, small ears, Brushfield spots of iris, clinodactyly, single palmar crease, cardiac defects, brachycephaly, protruding tongue, short neck, large space between first and second toes –Apert syndrome –Trisomy 13 –Trisomy 18 –Silver-Russell syndrome –Cleidocranial dysostosis –Kenny syndrome * Fetal hydantoin syndrome * Intrauterine growth retardation * Zellweger (cerebrohepatorenal) syndrome * Hurler syndrome (type I mucopolysaccharidosis)

Prevention - Progeroid syndrome Petty type

Not supplied.

Diagnosis - Progeroid syndrome Petty type

Not supplied.

Prognosis - Progeroid syndrome Petty type

Not supplied.

Treatment - Progeroid syndrome Petty type

* For hypothyroidism, the treatment is thyroid replacement therapy, typically determined by endocrinologist * Hydrocephalus is treated, if needed, with neurosurgery and ventriculoperitoneal shunting * Rickets is prevented with adequate vitamin D intake and moderate sun exposure; treated with calcium, calcitriol and/or vitamin D * Although no specific treatment exists for the multiple genetic disorders, genetic counseling is important for the family regarding the patient\'s prognosis and future pregnancies

Resources - Progeroid syndrome Petty type

Progeroid syndrome petty type: Another name for Petty-Laxova-Wiedemann syndrome

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