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An extremely rare disorder characterized by mental
retardation, distinctive mouth, obesity, and hypogonadism.
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Chudley-Lowry-Hoar Syndrome; Chudley Syndrome I.
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Extremely rare genetic disorder
(fewer than 10 cases have been described) with expression only in male
children. X-linked recessive inheritance with
the gene locus between Xp21 and Xq26.
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Moderate-to-severe mental retardation, short
stature, mild obesity, hypogonadism (often also cryptorchidism), single
palmar crease, and a low total finger ridge count. The distinctive face is
characterized by microcephaly with bitemporal narrowness, almond-shaped
palpebral fissures, depressed nasal bridge, anteverted nares, short and
inverted V-shaped upper lip, high arched palate, and macrostomia.
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Cooperation may be difficult because of
mental retardation. Sedative and/or anxiolytic premedication and/or the
presence of the primary caregiver during induction of anesthesia may be
beneficial. Assess airway for difficult management. The large tongue may
cause airway obstruction or make tracheal intubation difficult. Venous
access may be difficult because of obesity.
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Prader-Labhart-Willi Syndrome: An inherited disorder characterized by
muscular hypotonia, early childhood-onset obesity, hypogonadism, and mental
retardation.
Chudley AE, Lowry RB, Hoar DI; Mental retardation, distinct facial
changes, short stature, obesity, and hypogonadism: A new x-linked mental
retardation syndrome.
Am J Med Genet 31:741, 1988.
[PubMed: 3239563]