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PubMed1977

Goldenhar's syndrome, oculo-auricular malformation, in a Bantu girl.

The first case of Goldenhar's syndrome, oculo-auricular dysplasia, found in Bantu, is described. Besides the usual eye and ear manifestations a facial paresis at both sides was found. There were no signs of vertebral anomalies on X-rays. The use of a hearing aid showed that the apparent mental retardation was of a secondary nature, due to the hearing loss. The mother had not been ill in the first trimester of pregnancy and had not used any medicine.

Black People↗
PubMed2006

Cholesterol precursors and facial clefting.

Inborn errors of cholesterol synthesis cause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Because adequate cholesterol is not transported across the placenta, low cholesterol and elevated sterol precursor levels are present during embryogenesis. It has been debated whether the malformations result from low cholesterol or the buildup of sterol precursors. In this issue of the JCI, Engelking et al. provide evidence that sterol precursor accumulation plays a pivotal role in the genesis of facial malformations (see the related article beginning on page 2356).

Animals↗
PubMed2000

Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.

Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf Harofeh Medical Center, Israel, during 12 months (January to December 1998), 17 infants (an incidence of 0.31%) had asymmetric crying facies. One of the affected infants had ventricular septal defect and another infant had VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) syndrome. No noxious obstetric perinatal factors could be identified. Family history was unremarkable in all cases. Diagnostic work-up performed in all of the affected infants failed to reveal an additional congenital malformation. Asymmetric crying facies is a minor isolated finding in most of the cases; however, a thorough search for other congenital malformations, especially of the cardiovascular system, should be performed.

Crying↗
PubMed2001

Sleep-disordered breathing and upper-airway anomalies in first-degree relatives of ALTE children.

From 1985 through 1995, 348 infants aged 3 wk-3 mo were referred to the Stanford Sleep Clinic for "apparent life-threatening events" (ALTE). A small group of 48 infants with no history of sleep-disordered breathing (SDB) was also recruited and used as controls (they comprised group C). We conducted a systematic investigation of relatives (parents, siblings, and grandparents) of the infants, including a clinical evaluation, craniofacial investigation, and the completion of an extensive (189-question) validated sleep/wake questionnaire. All data were calculated before the subdivision of ALTE infants into two groups. The subdivision was based on a blind scoring of the infants' polygraphic recordings; 42.5% of the infants were negative for SDB (Group A), whereas 57.5% of the infants were positive for SDB (Group B). Groups A and C were not significantly different from each other. Forty-three percent of the relatives of Group B infants had been treated for SDB (with nasal CPAP, surgical or dental appliance treatments) compared with 7.1% of Group A relatives. Clinical investigation indicated a significantly higher presence of small upper airways in the families of infants with SDB. About twice as many relatives reported the presence of asthma in Group B compared with Group A. Naso-oro-maxillomandibular anatomic traits that may lead to small upper airways in parents may be risk factors for abnormal breathing during sleep in their infants.

Case-Control Studies↗
PubMed2005

Obstructive sleep apnea: diagnosis, medical management and dental implications.

BACKGROUND: Patients with undiagnosed obstructive sleep apnea (OSA) represent a major public health problem, and studies suggest that the incidence of OSA may be even higher than estimated. TYPES OF STUDIES REVIEWED: The authors reviewed current literature describing comorbidities of patients with OSA. RESULTS: Sleep medicine is a relatively new field. Dental practitioners may lack educational exposure and, as a result, feel uncomfortable asking their patients sleep-related questions. While patients with well-controlled OSA present few difficulties for routine dental treatment, it is imperative that health care professionals understand the comorbidities associated with OSA and that untreated OSA may contribute to increased morbidity and mortality. CLINICAL IMPLICATIONS: Dental professionals have a unique doctor-patient relationship that affords them a role in recognizing sleep disorders by exploring the history of patients who are sleepy.

Continuous Positive Airway Pressure↗
PubMed2006

An unusual pattern of dental damage with salivary gland aplasia.

BACKGROUND: Dental destruction can develop from numerous causes. Major salivary gland aplasia is an uncommon causative factor. The resulting xerostomia can lead to extensive dental demineralization. CASE DESCRIPTION: The author examined a 19-year-old man because of the patient's concern regarding decreased salivary volume and his dental condition. There was extensive loss of tooth structure and an astonishing pattern of dental destruction most notable on the palatal portions of the maxillary molars and premolars that is best described as "chipping." It was only after taking the patient's history, clinically examining the patient and conducting a radioisotope study that the author was able to make a confident diagnosis of the absence of four major salivary glands. CLINICAL IMPLICATIONS: Dentists should be aware that salivary gland aplasia is an uncommon cause of dental deterioration. It may manifest itself not by extensive caries but by a dental chipping effect. Early recognition and a therapeutic strategy can prevent progressive dental damage.

Adult↗
PubMed1986

Oro-maxillofacial development in patients with GH deficiency and in normal short children.

Detailed oro-maxillofacial studies using dental cast, pantomogram and cephalogram were performed in 43 patients with GH deficiency aged 7-17 years and compared statistically to the results from 62 short children with normal GH secretion. The dental age was retarded as compared to the chronological age in patients with GH deficiency by a mean of 2.0 +/- 1.3 years. This value did not differ statistically from that observed in normal short children (1.7 +/- 0.8 years). However the bone age was significantly retarded in patients with GH deficiency (3.2 +/- 1.7 yrs vs 1.5 +/- 1.1 yrs, p less than 0.001). There was no difference between tooth size or cephalogram analysis results in the children in the two groups. The coronal arch length, basal arch width and basal arch length were shorter in patients with GH deficiency. These data indicate underdevelopment of the maxilla in patients with GH deficiency.

Adolescent↗
PubMed1991

Syndrome delineation involving orofacial clefting.

A table comparing the number of syndromes with orofacial clefting for the years 1971, 1978, and 1990 is presented and discussed. Over 300 such disorders are known today. A second table is presented showing the frequency of associated anomalies with orofacial clefting. The wide range of frequencies found in various studies probably reflects the type of ascertainment. Undoubtedly, the process of syndrome delineation will further increase the number of disorders with orofacial clefting in the future.

Face↗
PubMed1993

Unilateral absence of the soft palate: case report of reconstruction with a mucoperiosteal island flap.

Congenital absence of half of the soft palate is a rare deformity. There is little in the literature about its definition and management. This article presents a case with velopharyngeal insufficiency caused by unilateral absence of the soft palate. The patient was treated with a modification of the mucoperiosteal island flap, first designed by Millard, to provide nasal lining during pushback lengthening of a short cleft palate. The speech quality of the patient improved noticeably after the operation. Although island flap has limited use in primary cleft palate surgery, it may be effective in reconstruction of soft palate defects, when standard pushback procedures are not adequate for solving the problem.

Child↗
PubMed1994

Orodigitofacial syndromes type I and II: clinical and surgical studies.

Eleven patients were followed at the multidisciplinary facial cleft department from 1963 to 1993. Nine had orodigitofacial (ODF) I syndrome (Papillon-Leage, 1954) and two had ODF II syndrome (Mohr, 1941). The authors observed seven median clefts of the upper lip, eight atypical cleft palates, nine lingual tumors, ten polylobed tongues, four ankyloglossia. All vestibular frenula were hypertrophied. Facial analysis showed five facial hypertelorisms, eight epicanthal folds, ten anomalies of the forehead. Nasal anomalies were constant with ten alar hypoplasia and four nasal curves. Syndactyly was the most frequent anomaly of the hand. Seven patients were mentally retarded. Transmission of ODF I is by X-linked dominant variable expression; ODF II is autosomal recessive. The difference in transmission means a precise diagnosis is necessary. Bilateral duplication of the great toe is characteristic of type II, but not pathognomonic. Hair and cutaneous anomalies suggest type I. The authors proposed a surgical treatment involving three operating steps.

Child↗
PubMed1997

Examine your orofacial cleft patients for Gorlin-Goltz syndrome.

The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.

Adult↗
PubMed2000

Double tongue, intraoral anomalies, and cleft palate--case reports and a discussion of developmental pathology.

OBJECTIVE: Isolated cleft palate is the most common presentation of the nonsyndromic cleft lip/palate combinations and is multifactorial in etiology. We report two cases of children with clefts of the secondary palate coexistent with double tongue and in either case mandibular epulis or superiorly displaced salivary gland. RESULTS AND DISCUSSION: In each case, the palatal cleft correlated anatomically with the intraoral space-occupying lesion. The ratio of tongue volume to intraoral volume during palatogenesis is discussed with reference to the pathogenesis of cleft palate. These clinical cases propose the model of a unifying sequence of developmental events whereby deformation of palatal shelf elevation results in secondary palatal clefting.

Choristoma↗
PubMed2001

The Tessier number 5 cleft with associated extremity anomalies.

OBJECTIVE: Oblique facial clefts are rare congenital deformities. They constitute 0.22% of all facial malformations. In this case report, an oblique facial cleft defined as Tessier number 5 is presented. The number 5 cleft of Tessier is one of the most rare congenital facial clefts; review of the literature revealed 20 patients. This case was also demonstrated with associated limb anomalies, suggesting that the patient may have been affected by the amnion rupture sequence. The teratology of these malformations is discussed, and attention is drawn to the amniotic rupture sequence as a possible cause.

Alveolar Process↗