Craniofacial phenotypes associated with Robinow syndrome.

Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. Due to low prevalence and considerable phenotypic variability, it has been challenging to definitively characterize features of Robinow syndrome. While craniofacial abnormalities associated with Robinow syndrome have been broadly described, there is a lack of detailed descriptions of genotype-specific phenotypic craniofacial features. Patients with Robinow syndrome were invited for a multidisciplinary evaluation conducted by specialist physicians at our institution. A focused assessment of the craniofacial manifestations was performed by a single expert examiner using clinical examination and standard photographic images. A total of 13 patients with clinical and molecular diagnoses consistent with either dominant Robinow syndrome (DRS) or recessive Robinow syndrome (RRS) were evaluated. On craniofacial examination, gingival hyperplasia was nearly ubiquitous in all patients. Orbital hypertelorism, a short nose with anteverted and flared nares, a triangular mouth with a long philtrum, cleft palate, macrocephaly, and frontal bossing were not observed in all individuals but affected individuals with both DRS and RRS. Other anomalies were more selective in their distribution in this patient cohort. We present a comprehensive analysis of the craniofacial findings in patients with Robinow Syndrome, describing associated morphological features and correlating phenotypic manifestations to underlying genotype in a manner relevant for early recognition and focused evaluation of these patients.

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. The suggested diagnosis Catel-Manzke syndrome was confirmed by the detection of two compound heterozygous mutations in TGDS: The known variant c.298G>T; p.(Ala100Ser) and the so far undescribed variant c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. This is the first report on the association of mutations in TGDS with additional anomalies of the middle fingers and halluces. We provide a detailed phenotypic characterization of the only fetus with molecularly confirmed Catel-Manzke syndrome, which is relevant for prenatal diagnosis. Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome.

[Diagnosis and management of ankyloglossia in young children]. / Diagnostic et prise en charge de l'ankyloglossie chez le jeune enfant.

Ankyloglossia is a common condition. Its prevalence is between 3.2% and 4.8% depending on the series and is largely underestimated given the fact of non-diagnosis when the symptoms are limited. It is defined as a short lingual frenulum resulting in a limitation of the lingual mobility. It is due to a defect in cellular apoptosis embryogenesis between the floor of the mouth and tongue. The result is a fibrous and short lingual frenulum. Several classifications were used to make the diagnosis. However, these are the clinical implications, particularly on food and primarily breastfeeding in the baby and phonation in older children that will motivate the management. This is surgical and different techniques are available: infants before the age of 6 months and when the lingual frenulum is still a fine cellular membrane, frenotomy is recommended. Frenectomy with or without frenoplasty is indicated for the older child. The surgery is simple, the results are good and rapidly improving grievances. Complications are rare. Finally, speech therapy is important when there are implications for phonation.

The development of a tongue assessment tool to assist with tongue-tie identification.

AIM: To produce a simple tool with good transferability to provide a consistent assessment of tongue appearance and function in infants with tongue-tie. METHODS: The Bristol Tongue Assessment Tool (BTAT) was developed based on clinical practice and with reference to the Hazelbaker Assessment Tool for Lingual Frenulum Function (ATLFF). This paper documents 224 tongue assessments using the BTAT. There were 126 tongue assessments recorded using the BTAT and ATLFF tools to facilitate comparisons between them. Paired BTAT assessments were obtained from eight midwives who were using the new assessment tool. RESULTS: There was acceptable internal reliability for the four-item BTAT (Cronbach's α=0.708) and the eight midwives who used it showed good correlation in the consistency of its use (ICC=0.760). The BTAT showed a strong and significant correlation (0.89) with the ATLFF, indicating that the simpler BTAT could be used in place of the more detailed assessment tool to score the extent of a tongue-tie. Midwives found it quick and easy to use and felt that it would be easy to teach to others. CONCLUSIONS: The BTAT provides an objective, clear and simple measure of the severity of a tongue-tie, to inform selection of infants for frenotomy and to monitor the effect of the procedure.

Tongue-tie and breastfeeding in newborns-mothers' perspective.

OBJECTIVE: This study explored clinical implications of tongue-tie (TT) on breastfeeding from the mothers' perspective and evaluated the assistance provided. MATERIALS AND METHODS: This was a single-center observational study using a structured survey. All newborns with TT born in 2005-2010 were identified; two controls without TT were assigned for each. Mothers were interviewed using a uniform structured questionnaire regarding breastfeeding experience, challenges, lactation consultation, and frenotomy, if performed. RESULTS: One hundred eighty-three TT mothers and 314 controls were interviewed. Although the overall rates of breastfeeding problems in the first month were similar (59% vs. 52%, respectively), TT mothers reported significantly more problems with latching, prolonged breastfeeding, and infant's exhaustion during feedings, but not pain or sore nipples. Breastfeeding rates at 6 months were similar. TT mothers more frequently used pumped breastmilk to supplement breastfeeding. Significantly more TT mothers sought consultation after discharge, and a significantly greater proportion of them felt that lactation consultation helped. Eighty-seven percent of the mothers were aware of their children's TT, yet only 50% associated it with breastfeeding problems. Of the TT infants at 2 years of age or older, 11.9% were reported to have speech problems. The possibility of frenotomy was mentioned to 69% of mothers, and it was performed in 35% of cases. Procedure satisfaction was generally poor, except for when done to solve breastfeeding problems. CONCLUSIONS: TT infants had significantly more breastfeeding problems in the first month, but similar rates and durations of breastfeeding. Early diagnosis and lactation consultation may assist mother-infant dyads substantially. Mothers whose infants underwent frenotomies for breastfeeding more frequently found the procedure alleviated breastfeeding problems.

Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome.

Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped' chin abnormality and 'pinched lips' in addition to extra-facial features such as kyphoscoliosis and hand deformities. Such children often have problems with oral continence and difficulties with speech leading to both nutritional and psychosocial concerns. Prompt correction through surgery is therefore important in effectively managing the condition. We report the case of a 7-year-old girl who presented with the appearance of scarred lips with difficulties in closing her mouth, a speech impediment and oral incontinence. Using a muscle-sparing technique to reconstruct the upper and lower lips, better oral continence was achieved alongside markedly improved speech and an aesthetically pleasing result. Taken together, this case aptly illustrates the benefits of lip reconstruction in improving function and cosmesis in patients with FSS.

Correlation between dental maturation and chronological age in patients with cerebral palsy, mental retardation, and Down syndrome.

Determining a child's chronological age and stage of maturation is particularly important in fields such as paediatrics, orthopaedics, and orthodontics, as well as in forensic and anthropological studies. Some systemic conditions can cause abnormal physiological maturation, and skeletal maturation is usually more delayed than dental maturation. The aim of this study was to determine dental age in a group of patients with the most prevalent congenital or perinatally occurring physical and mental disabilities. The study group comprised 155 white Spanish children aged 3-17 years (35 with cerebral palsy, 83 with mental retardation and no associated syndromes or systemic conditions, and 37 with Down syndrome). The dental maturation indices described by Nolla and Demirjian were used to generate regression lines for the dental age of individuals in a control group (688 white Spanish children aged 3-17 years) and the formulae were then used to determine the dental age of patients in the study group. No significant differences were found between dental and chronological age in boys with cerebral palsy, mental retardation, or Down syndrome. In contrast, dental age (calculated from the linear regression model that included values for the Demirjian index) was significantly delayed compared with chronological age in girls with cerebral palsy or Down syndrome.

The influence of craniofacial growth in a case of transverse facial cleft.

This report presents the case of a female patient bearing a right-side transverse facial cleft. She has received interdisciplinary treatment since birth. At regular intervals, dental casts were made, and profile and full-face photographs, lateral and postero-anterior cephalograms were taken during the course of orthodontic treatment and maxillofacial surgery. We evaluated her diagnostic records with the intent of documenting the effects of growth and therapy on the skeletal structures of the facial cranium and on occlusion, and to show the influence on facial esthetics. Her facial morphology and occlusion were manifest at birth and in the primary dentition. The maxilla and mandible deviated from the midsagittal plane toward the cleft side, with the mandible considerably more affected, revealing a markedly posterior position. The lateral skeletal deviation of both jaws increased slightly during growth, yet the midline deviation of the dental arches and malocclusion clearly worsened. The increasing deviation was not obvious in full-face photographs. Especially in the primary and mixed dentition, the mandible shifted to the anterior, which was visible in both the lateral cephalograms and profile photographs. On the whole, however, no noteworthy alteration in the character of the craniofacial morphology occurred by the time growth was complete, despite functional jaw-orthopedic and maxillofacial surgical treatment consisting of two distraction osteogenesis procedures.

[Abnormal tongue position during production of Polish consonant sounds in persons with mandibular prognathism]. / Dorsalny uklad jizyka podczas realizacji polskich fonemów spólgloskowych u osób z prognatyzmem zuchwy.

PURPOSE: This work presents the results of research on the guality of articulation of patients with occlusion defects. Freguency of occurence the following matters has been presented: defects of speech, defective articulation of Polish consonantal phonemes, and undesirable phonetic features of non-normative articulation of phonemes. MATERIAL AND METHODS: This study was done in 23 patients with mandibular prognathism. RESULTS: All subjects participating in this study were found to have speech disorders. Distortions in the phonation of Polish consonant phonemes /s, z, c, dz/, /s, z, c, dz, n, j/, /t, d, n/, /sz, z, cz, dz, l, r/ and /f, w / were found. Failure to elevate the tongue to various degrees during articulation was the most frequent undesirable manner of phonation. Disorted phonation in persons with mesioccusion seems to be caused by anatomical and functional abnormalities of the maxillofacial structure or anterior displacement of the tongue and the hyoid bone. CONCLUSION: Due to the frequent nature of speech disorders and serious articulation defects in persons with mandibular prognathism, the team of professionals treating this abnormality should include a speech therapist.

Feeding problems of infants and toddlers.

OBJECTIVE: To propose a diagnostic and therapeutic approach to feeding problems in early childhood. QUALITY OF EVIDENCE: Articles were retrieved through a MEDLINE search from January 1990 to December 2005 using the MeSH terms eating disorders, infant, and child. Recommended practice is based mainly on levels II and III evidence. MAIN MESSAGE: Feeding problems are classified under structural abnormalities, neurodevelopmental disabilities, and behavioural disorders, with overlap between categories. A medical approach also needs an evaluation of diet and an assessment of the interaction between parent and child. Treating medical or surgical conditions, increasing caloric intake, and counseling about general nutrition can alleviate mild to moderate problems. More complicated cases should be referred to multidisciplinary teams. Behavioural therapy aims to foster appropriate behaviour and discourage maladaptive behaviour. CONCLUSION: Feeding problems in early childhood often have multifactorial causes and a substantial behavioural component. Family physicians have a key role in detecting problems, offering advice, managing mildly to moderately severe cases, and referring more complicated cases to multidisciplinary teams.

[Congenital malformations and asymmetric crying facies]. / Malformazioni congenite e asimmetria della bocca nel pianto.

Asymmetric crying face (ACF) means a congenital anomaly caused by either agenesis or hypoplasia of the depressor anguli oris muscle. This defect is on only one corner of the mouth since the birth, affects lower lip, and is particularly evident when the newborn is crying. Lesions at different levels of seventh nerve can cause similar and confounding weakness of the facial expressions. But, in case of ACF, forehead wrinkling, eye closure, nasolabial fold depth, and tearing are normal and symmetric functions. ACF can be either as single plain aesthetic defect or as early only index of several congenital malformations, especially of heart and genitourinary tract. Our study recognized 80 ACF cases in 11,643 newborn's population during a 34 consecutive month period: 34 on right side and 46 on left side of the mouth. ACF population presented a higher malformative risk than general population (on average 4.73% versus 3.3% of our base-line). Congenital anomalies were found more frequently associated with left ACF (3 versus 1, for a general rate of 6.52% versus 2.94%), on the same body side when anomaly was affecting pair organs. Those 3 congenital malformations were on genitourinary tract, 2 of which detected by ultrasonography. We did not find any congenital cardiac defects. According to opinion of numerous other researchers, we think ACF is not to be considered a simple aesthetic anomaly: therefore, in front of all ACF cases, a thorough search for associated anomalies should be performed.

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects.

We reported on a Japanese boy similar to the patients previously reported by Malpuech et al. (1983) with mental and growth retardation, hypertelorism, bilateral cleft lips, cleft palate, and urogenital anomalies. He also had undescribed cardiac defects. This is probably the second case report of Malpuech facial clefting syndrome.

Opitz (BBB/G) syndrome: oral manifestations.

We studied a new case of the G (Opitz BBB/G) syndrome in a 12-year-old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high-arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females.

Objective evaluation of an airway management appliance in infants with craniofacial anomalies.

This study describes an intraoral appliance designed to reposition the tongue to facilitate a patent airway for infants experiencing respiratory distress. Transcutaneous pulse oximetry is used to objectively evaluate this method of airway management in 15 neonates with craniofacial anomalies. The appliance can significantly improve the blood oxygen saturation level in the infants in whom it is used (P less than .0001).