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At a glance

An extremely rare disorder characterized by mental retardation, distinctive mouth, obesity, and hypogonadism.

Synonyms

Chudley-Lowry-Hoar Syndrome; Chudley Syndrome I.

Incidence

An extremely rare genetic disorder (a 3-year-old boy and his two maternal uncles, and potentially two additional male family members) with expression only in males.

Genetic inheritance

X-linked recessive inheritance with the gene locus between chromosome Xp21 and Xq26-27.

Diagnosis

Based on the clinical features. Molecular genetic testing may be helpful in narrowing down the differential diagnosis.

Clinical aspects

Moderate-to-severe mental retardation, short stature, mild infant-onset obesity, genua valga, hypogonadism (small testes, one patient with cryptorchidism), and a low-total finger ridge count. The distinctive facies is characterized by bitemporal narrowing, low-posterior hairline, dysplastic ears, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted, V-shaped upper lip, high-arched palate, and short neck. Microcephaly, macrostomia, macroglossia, and single palmar crease were each reported in one patient.

Precautions before anesthesia

Assess for difficult airway management including mobility of the short neck. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Overall, facial dysmorphism is mild and should not make airway management difficult. However, the short neck (all patients) and large tongue (one patient) may make facemask ventilation and/or tracheal intubation difficult, thus maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. Obesity is rather mild and mainly truncal, hence peripheral venous access is not expected to be difficult.

Pharmacological implications

None specific to this disorder.

Other conditions to be considered

  • Bardet-Biedl Syndrome (Biedl Syndrome): Congenital ciliopathy with pigmentary retinopathy, renal and cardiac anomalies, diabetes mellitus, obesity, polydactyly, and hypogonadism.

  • Börjeson-Forssman-Lehmann Syndrome (Börjeson Syndrome): Severe form of X-linked mental retardation with short stature, obesity, hypogonadism, and large ears.

  • Prader-Labhart-Willi Syndrome (Prader-Willi Syndrome; Willi-Prader Syndrome): Inherited disorder characterized by infantile muscular hypotonia, early childhood-onset obesity, hypogonadism, and mental retardation.

Reference

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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 31:741–751, 1988.  [PubMed: 3239563]

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