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Genetically transmitted syndrome characterized by the association of eye, ear, teeth, and hand abnormalities. The potential association of cardiac defects cannot be excluded.

Levy Hollister Syndrome; Limb Malformations-Dento-Digital Syndrome.

Exact incidence unknown. Only 12 cases reported in the literature.

Autosomal dominant inheritance with variable expression.

Suspected disorder of mesomelic development.

Wide variability in clinical expression. Persistent dry mouth because of decreased salivation caused by aplasia or hypoplasia of the salivary glands. Other features include severe dental caries; nasolacrimal duct obstruction with chronic epiphora and dacryocystitis; absent lacrimal gland; peg-shaped teeth with enamel hypoplasia; cup-shaped ear(s) and sometimes hearing loss; preaxial digital anomalies (triphalangeal thumb, digitalization of thumb, syndactyly, radial hypoplasia) and clinodactyly of the fifth digit. Other features less commonly associated include congenital renal disease (bilateral renal agenesis, cystic dysplastic kidneys) and dysmorphic facies with retrognathia, high forehead, and deep metopic fissure. One patient was reported to have a complex cardiopulmonary malformation: right diaphragmatic palsy (which was present in asymptomatic form in the mother also), hypoplasia of the left lung vasculature without bronchial anomalies, mild hypoplasia of the left pulmonary artery, and, on echocardiography, aneurysm of the interventricular septum.

The potential for difficult direct laryngoscopy and tracheal intubation must be evaluated carefully clinically and radiologically if needed. A thorough examination of the renal, pulmonary, and cardiac systems must be performed, although the association of anomalies is not frequent but significant when part of the clinical picture. Pulmonary hypertension may be present because of pulmonary vascular hypoplasia and should be specifically investigated (e.g., arterial blood gases, chest radiographs, ultrasound, CT scan, and echocardiography). The laboratory investigation should include electrolytes, creatinine, blood urea nitrogen (BUN), and coagulation profile.

The possibility of difficult laryngoscopy and tracheal intubation is present. Brittle teeth may damage easily; therefore dentition must be checked prior to oral instrumentation. The presence of feet and hands abnormalities may make placement of intravenous and arterial catheters difficult. Diaphragmatic palsy may increase postoperative respiratory complications. Pulmonary hypertension may be present because of pulmonary vascular hypoplasia, and the anesthetic management should be adapted according to this clinical presentation. The fluid regimen should be adapted to the renal function.

Preservation of spontaneous ventilation until confirmation that either face-mask ventilation or tracheal intubation can be achieved easily must be ensured before neuromuscular blocking agents are used. Avoid atropine if possible because of the presence of hypoplasia of the salivary glands and potential consequences of severely drying lung secretions.

Azar T, Scott JA, Arnold JE, Robin NH: Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome. Ann Otol Rhinol Laryngol 109:779, 2000.  [PubMed: 10961813]
Francannet C, Vanlieferinghen P, Dechelotte P, et al: LADD syndrome in five members of a three-generation family and prenatal diagnosis. Genet Counsel 5:85, 1994.  [PubMed: 8031542]
Heinz GW, Bateman JB, Barrett DJ, et al: Ocular manifestations of ...

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