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At a glance

It is an extremely rare genetically transmitted medical condition that affects the lachrymal glands and ducts, eye, ear, teeth, and hands. The potential association to cardiac defects cannot be excluded. LADD Syndrome is either caused sporadically or inherited as an autosomal dominant trait.

Synonyms

LADD’s Syndrome; Levy Hollister Syndrome; Limb Malformations-Dento-Digital Syndrome.

History

This medical condition was first described in 1967.

Incidence

Exact incidence unknown. Only 50 cases have been reported in the literature. It affects males and females equally.

Genetic inheritance

Autosomal dominant inheritance with variable expression.

Pathophysiology

Suspected disorder of mesomelic development.

Clinical aspects

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.

Precautions before anesthesia

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 (eg, arterial blood gases, chest radiographs ultrasound, CT scan, and echocardiography). The laboratory investigation should include electrolytes, creatinine, blood urea nitrogen (BUN), and coagulation profile.

Anesthetic considerations

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.

Pharmacological implications

Preservation of spontaneous ventilation until confirmation that either face-mask ventilation or tracheal intubation can be achieved easily must be ...

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