Presentation
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. [accessanesthesiology.mhmedical.com]
Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. [ebi.ac.uk]
A father presented to a pediatrics clinic with his daughter for a well-child visit. The father had shortened forearms and 3 fingers on each hand, along with small, gray, peg-shaped lower incisors and capped upper incisors (Figures 1-3). [consultant360.com]
Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. McKenna GJ, Burke FM, Mellan K. McKenna GJ, et al. Eur Arch Paediatr Dent. 2009 Nov;10 Suppl 1:35-9. doi: 10.1007/BF03262698. [pubmed.ncbi.nlm.nih.gov]
We report on this unusual and relatively unknown syndrome with reference to a 13-year-old girl suffering from LADD syndrome presenting symptoms of severe xerostomia and various craniofacial malformations, hearing loss, enamel dysplasia, microdontia, and [link.springer.com]
Cardiovascular
- Palpitations
He also complained of palpitations. No other member of the family reported similar complaints. On physical examination, the child's general health was good and intellectual development was considered normal. [jisppd.com]
Skin
- Eruptions
Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. [ebi.ac.uk]
Delayed eruption of primary teeth MedGen UID: 341477 •Concept ID: C1849538 • Finding Delayed tooth eruption affecting the primary dentition. [ncbi.nlm.nih.gov]
Affected individuals may also have small, underdeveloped (hypoplastic) teeth with thin enamel, peg-shaped incisors, and delayed eruption of primary teeth. Individuals with LADD syndrome may have cup-shaped, low-set ears. [rarediseases.org]
Eyes
- Antimongoloid Slant
slant of eyes and malformed ears which were low set [Figure 1]c, d. [jisppd.com]
- Dry Eyes
Artificial tear substitutes may be used to treat dry eyes. Genetic counseling is recommended for affected individuals and their families. [rarediseases.org]
Ears
- Hearing Impairment
Mixed hearing impairment MedGen UID: 102336 •Concept ID: C0155552 • Disease or Syndrome A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. [ncbi.nlm.nih.gov]
Surgical intervention may be needed to improve arm and hand function, lacrimal abnormalities, and hearing impairments. Outcome of the case. [consultant360.com]
- Low Set Ears
[…] forehead, antimongoloid slant of eyes and malformed ears which were low set [Figure 1]c, d. [jisppd.com]
Individuals with LADD syndrome may have cup-shaped, low-set ears. Hearing loss, which has ranged from mild to severe, has also been reported. [rarediseases.org]
Psychiatrical
- Suggestibility
Chest X-ray revealed the first ribs to be small in size and suggestive of hypoplastic first rib or presence of cervical rib bilaterally. Based on above clinical and radiographic findings a diagnosis of LADD syndrome was made. [jisppd.com]
Neurologic
- Irritability
In addition, he complained of dryness and irritability of eyes with purulent discharge from both eyes and ears since two and a half years. He also complained of palpitations. No other member of the family reported similar complaints. [jisppd.com]
Treatment
Parent's knowledge of child's congenital absence of major salivary glands and lack of permanent remedial treatment led to disinterest for further investigations and treatment. [jisppd.com]
Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Etiology
The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]
Pathophysiology
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. [accessanesthesiology.mhmedical.com]
Prevention
A 7-year-old boy, reported to the department of Pedodontics and Preventive Dentistry with the chief complaint of persistent dryness of the mouth and eating difficulties. [jisppd.com]