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Hypertrichosis, atrophic skin, ectropion, and macrostomia.

Less than 10 cases have been reported since 1982.

Defective regulation or mutation of an unspecified gene may be responsible for this condition and for the ablepharon-macrostomia syndrome (AMS). Whether Barber-Say Syndrome is a totally separate entity or part of a clinical spectrum that includes the AMS, is unclear.

The exact mechanism resulting in abnormal development of the skin and its related structures remains to be determined.

Clinical features. Characteristic signs of Barber-Say syndrome that distinguish it from AMS include bilateral ectropion and generalized hypertrichosis already present at birth. Skin biopsy shows a decreased number of elastic fibers with hypocollagenosis, atrophic epidermis, hyperkeratosis, and a thin reticular layer of dermis.

The syndrome is characterized by hypertrichosis and an unusual face with absent or sparse eyebrows, ocular hypertelorism, ocular telecanthus, and bilateral ectropion, or even absent eyelids. The nasal bridge is broad and the nostrils are anteverted. Macrostomia, thin lips, high-arched, narrow palate, and micrognathia and retrognathia. Dentition is normal, but tooth eruption may be delayed. Abnormal ear conchae with small or atretic external auditory meatus. Audiometry and auditory brainstem reflexes are normal. The chest is large with widely spaced, hypoplastic, inverted, or even absent nipples. Hypoplasia of mammary glands and labia minora may occur. Abnormal laxity of the skin. Mild retardation of psychomotor development with reduced or normal IQ has been reported. Abdominal, renal, and cardiac ultrasound examination are normal. Results of hematologic, endocrinologic, and radiologic examinations usually are unremarkable.

Venous access may be difficult because of the laxity and redundancy of the skin. Airway assessment (retrognathia/micrognathia and high-arched, narrow palate). Anticholinergic premedication may be advisable in the case of expected difficult airway management.

If difficult airway management is anticipated, an inhalational induction or awake fiberoptic tracheal intubation should be considered. Simple eye ointment for eye protection should be administered to both eyes to prevent corneal damage during anesthesia.

No specific pharmacological considerations apply.

Ablepharon-Macrostomia Syndrome (AMS): Extremely rare congenital dysmorphic syndrome with predominantly facial anomalies. Heart, kidney and liver anomalies are also common.

Barber N, Say B, Bell RF, et al: Macrostomia, ectropion, atrophic skin, hypertrichosis, and growth retardation. Syndr Ident 8:6, 1982.
Mazzanti L, Bergamaschi R, Neri I, et al: Barber-Say syndrome: Report of a new case. Am J Med Genet 78:188, 1998.  [PubMed: 9674915]
Sod R, Izbizky G, Cohen-Salama M: Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say syndrome. Am J Med Genet 73:366, 1997.  [PubMed: 9415700]

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