Prevalence of mouth breathing, with or without nasal obstruction, in children with moderate to severe obstructive sleep apnea.

BACKGROUND: Mouth breathing (MB) is a symptom of obstructive sleep apnea (OSA) in children, but its diagnosis remains challenging. The main objectives of our study were to evaluate whether parents' and physician's diagnose of MB were concordant and to evaluate the prevalence of nasal obstruction in children with OSA and MB. METHODS: Ninety-three children (median age: 10.6 years, range 3-18) with moderate to severe OSA prospectively underwent otorhinolaryngologist (endoscopy, acoustic rhinometry and pharyngometry allowing calculation of pharyngeal compliance) and orthodontist (clinical exam and cephalometry) assessments together with parental interview (daytime MB: never, sometimes, often, always). MB was also assessed by the otorhinolaryngologist (nasal obstruction on endoscopy) and the orthodontist (incompetent lips or anterior open bite or low tongue position). RESULTS: Thirty-eight children (41%) were mouth (parental criterion: MB often or always, median age 8.2 years) and 55 nasal (11.4 years, p = 0.016) breathers. The agreement of parental and physician diagnosis of MB was slight (orthodontist) to moderate (otorhinolaryngologist). Parental diagnosis of MB was associated with nasal obstruction on acoustic rhinometry and endoscopy (hypertrophy of inferior turbinate, n = 18 or adenoids, n = 15) and with an adenoid facies (increased Frankfort's mandibular plane angle on cephalometry). Eleven children had MB by habit and were characterized by more severe OSA and higher pharyngeal compliance than mouth breathers with nasal obstruction. CONCLUSION: MB diagnosis by parents is acceptable and is mainly related to nasal obstruction. A subset of children had MB by habit associated with worst OSA and increased pharyngeal compliance that could benefit from myofunctional therapy.

New surgical method of tongue reduction for macroglossia: technical note.

OBJECTIVE: We describe here a new surgical technique, which allows for efficient tongue reduction with satisfactory appearance and avoids the complications of tip excision. STUDY DESIGN: This is a retrospective case review that includes 6 patients who had macroglossia and underwent tongue reduction using our new central V-shaped excision technique. Three patients were operated on at an early age because of significant macroglossia with permanent tongue protrusion, cosmetic disorder, and speech delay. The other 3 patients underwent surgery performed in their teenage years because medical treatment had been unsuccessful. We assessed tongue shape, mobility, taste, and sensitivity. RESULTS: The postoperative follow-up period ranged from 2 months to 16 years (average 7 years). On subjective evaluation, all patients were satisfied with the appearance of the tongue and reported no sensitive or sensory difficulties. The patients reported normal food progression in the oral cavity. Objective evaluation showed that the tongue had normal mobility, taste, and sensitivity. Postoperatively, there was no residual tongue protrusion, cosmetic disorder, or speech delay. None of the patients needed revision surgery. CONCLUSIONS: This central V-shaped excision offers good surgical results, with efficient tongue reduction and none of the complications of other tongue reduction techniques, such as tip amputation or anterior wedge resection.

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1-3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors. We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS.

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

BACKGROUND: Kallmann syndrome (KS) is a rare genetic disorder characterised by central hypogonadism with a lack of sense of smell and in some cases renal aplasia, deafness, syndactyly, cleft lip/palate, and dental agenesis. To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS. AIM: The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene. DESIGN: Six individuals displaying dental agenesis were included. Clinical and radiological dental evaluations as well as medical anamneses were carried out. RESULTS: Microdontia, screwdriver-shaped mandibular incisors, thin molar roots, and patterns of dental agenesis in both dentitions were observed. One to nine teeth were missing, most frequently, in descending order, lateral mandibular incisors, second premolars of upper and lower jaws, and lateral maxillary incisors. The pattern of dental agenesis is associated with four new mutations in the FGFR1 gene. CONCLUSION: Dental agenesis may be a clinical feature of Kallmann syndrome caused by a mutation in the FGFR1 gene. These findings highlight the role that odontologists can play in the early diagnosis and treatment of gonadotropic deficiency.

Severe snoring in a child with pycnodysostosis treated with a bilateral rib graft.

Pycnodysostosis is a rare osteopetrotic disorder. This report describes a case of a 3(1/2)-year-old boy with pycnodysostosis who presented with severe snoring. The snoring was the result of a pharyngeal narrowing due to a hypoplastic mandible. Surgery consisted of a bilateral rib graft, which allowed an enlargement of the pharynx by acting both on an anterior projection of the chin and a decrease of the glossoptosis. A significant reduction of the snoring and an excellent mouth aperture were obtained. This technique is ideal for such patients presenting a high risk of infection, nonunion, and secondary fracture.

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome).

Interactions between Hox-negative cephalic neural crest cells and the foregut endoderm in patterning the facial skeleton in the vertebrate head.

The vertebrate face contains bones that differentiate from mesenchymal cells of neural crest origin, which colonize the median nasofrontal bud and the first branchial arches. The patterning of individual facial bones and their relative positions occurs through mechanisms that remained elusive. During the early stages of head morphogenesis, an endodermal cul-de-sac, destined to become Sessel's pouch, underlies the nasofrontal bud. Reiterative outpocketings of the foregut then form the branchial pouches. We have tested the capacity of endoderm of the avian neurula to specify the facial skeleton by performing ablations or grafts of defined endodermal regions. Neural crest cells that do not express Hox genes respond to patterning cues produced regionally in the anterior endoderm to yield distinct skeletal components of the upper face and jaws. However, Hox-expressing neural crest cells do not respond to these cues. Bone orientation is likewise dependent on the position of the endoderm relative to the embryonic axes. Our findings thus indicate that the endoderm instructs neural crest cells as to the size, shape and position of all the facial skeletal elements, whether they are cartilage or membrane bones.