Head and neck
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague in Paediatric Surgical Diagnosis, 2018
Cleft palate is caused by failure of fusion of the palatal shelves, and may affect just the soft palate or both the soft and hard palates. This produces a less severe cosmetic defect, but breast-feeding is impossible because of lack of oral suction. It requires repair before the end of the first year so that normal speech can be acquired. Isolated cleft palate occurs in some instances as part of the Pierre-Robin sequence, where it is due to inability of the tongue to sink into the floor of the mouth because of the abnormally small mandible. The tongue then prevents palatal fusion and leads to a large rectangular cleft. Cleft lip and palate are often inherited together, and are commonly associated with multiple malformation syndromes. They may not only cause feeding difficulties but can also affect speech, dentition and hearing and so are best managed by a multidisciplinary team.
The development and disruption of feeding skills in babies and young children
Southall Angela in Feeding Problems in Children, 2017
There are a number of abnormalities of the oral, nasal and pharyngeal regions that may disrupt feeding. The most common of these are the various types of cleft of the lip and/or palate, which as a group occur in one in 600 births. As a general rule, cleft just of the lip alone does not cause great problems; indeed, mothers who wish to breastfeed these babies are often successful. Cleft palate occurs in various forms. These range from sub-mucous cleft where there is no obvious 'hole', as it is the underlying bone and muscle which has failed to fuse despite an intact mucosal layer, through unilateral cleft of the hard and/or soft palate to bilateral cleft, where the child has very little effective roof to the mouth. This lack of intact palate may affect the posture and function of the tongue and thus feeding efficiency. Without an efficient soft palate, which would normally elevate to close of the nose during sucking and swallowing, there is a tendency for food to enter the nose. Some cleft babies learn to direct milk backwards with relatively little leakage into the nose. Others are troubled by a very inefficient suck and marked nasal regurgitation, particularly of liquids.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Prenatal US features: campomelic dysplasia may present in the first trimester with increased nuchal translucency and at 13 weeks of gestation with bowed femora, and punctiform tibiae and fibulae. In the second trimester a sagittal scan of the face shows a flat nasal bridge, elongated philtrum and micrognathia. Cleft palate may be present. Fetal ultrasound shows symmetrical anterior bowing of the lower extremities with hypoplasia of fibulae and talipes equinovarus. The upper extremities have long bones of normal length or with only mild shortening. The short femora show symmetrical anterolateral bending or mild angulation at the proximal third but the short tibiae show an anterolateral diaphyseal angulation of the distal third. Other sonographic features include: hypoplastic scapulae, a bell-shaped chest and 11 pairs of ribs, better diagnosed with three-dimensional ultrasound. Central nervous system, cardiac and renal anomalies, including mild hydronephrosis have been described.
Long-term outcomes in children with and without cleft palate treated with tympanostomy for otitis media with effusion before the age of 2 years
Published in Acta Oto-Laryngologica, 2020
Maki Inoue, Mariko Hirama, Shinji Kobayashi, Noboru Ogahara, Masahiro Takahashi, Nobuhiko Oridate
Otitis media with effusion (OME) is common in infants with cleft palate due to Eustachian tube (ET) dysfunction [1]. Various studies have reported that up to 90% and more of children with cleft palate may suffer from OME [2,3]. In children with cleft palate, ET dysfunction is probably caused by abnormal insertion of the tensor veli and levator veli palatini muscles. The tensor veli palatini muscle is involved in middle ear ventilation through the ET opening mechanism. Velopharyngeal disclosure, owing to the levator veli palatini muscle impairment, may also lead to ET dysfunction, specifically related to peritubal lymphoid hyperplasia, resulting from soiling of the nasal cavity with food [1]. Additionally, poor ventilation of the middle ear cavity owing to ET dysfunction causes negative pressure and retraction of the tympanic membrane (TM), thus leading to OME.
Speech outcome in young children born with unilateral cleft lip and palate treated with one- or two-stage palatal repair and the impact of early intervention
Published in Logopedics Phoniatrics Vocology, 2019
Liisi Raud Westberg, Lena Höglund Santamarta, Jenny Karlsson, Jill Nyberg, Erik Neovius, Anette Lohmander
It has been proposed that early intervention strategies in the cleft palate population can facilitate correct consonant production and reduce active articulation errors in later speech production (14). Hardin-Jones and Chapman (14) evaluated the effect of therapeutic intervention supporting children’s speech in natural environments through modelling and tactile cues. Children were between 17 and 27 months of age, and participated without their parents. A statistically significant higher proportion of correctly produced sounds was found in the group with therapy compared to the group without (14). For children with cleft palate, it has further been hypothesized that early direct stimulation of consonant production could prevent active speech deviances from being established in speech (15) and even been claimed that it is necessary in order to change early posterior articulation behaviour (16). According to the systematic review by Meinusch and Romonath (17), behavioural early intervention for children with cleft palate has not yet been evaluated. In Stockholm, a consultative early intervention approach based on behavioural principles for children born with cleft lip and palate (CLP) was adapted as a clinical routine about two decades ago. A preliminary chart review of 79 consecutive infants born CLP who participated in this early intervention showed lack of clear indications and no significant relationship with the articulation proficiency at three years of age (18).
FEVR findings in patients with Loeys-Dietz syndrome type II
Published in Ophthalmic Genetics, 2018
Mark A. Solinski, Michael P. Blair, Harry Dietz, David Mittelman, Michael J. Shapiro
His past medical history was notable for a prenatal diagnosis of bilateral clubfoot and a dilated and tortuous aorta on maternal ultrasound. He was born after a full term of gestation. After birth, the patient showed cleft palate and bilateral finger contractures. MRI revealed dilated anterior part of the lateral ventricle. Ultrasound revealed dilated extrarenal pelvis. Echocardiogram noted patent ductus arteriosus, patent foramen ovale, and spontaneous pneumothorax. The aortic root diameter measured 2.4 cm (z-score of 3.77). Further examination showed exotropia, lumbar kyphosis, crumpled ears, frontal bossing, bifid uvula with cleft soft palate, slight retrognathia, lateral deviation of the fingers, mild adduction of the feet, dolichocephaly, craniosynostosis, malar hypoplasia, orbital hypertelorism, widely spaced teeth, arachnodactyly, translucent skin, pes planus, increased elbow extension, and basilar invagination with C2-C3 instability. His height charted at the 95th percentile. The clinical diagnosis of LDS was established on the basis of the skin findings, skeletal and craniofacial features, and aortic root dilation. At 8 months, genetic analysis found a mutation in TGFBR2 (p. R528H) and confirmed LDS Type II. Parental testing showed the mutation was acquired de novo. Surgical interventions included aortic root replacement at 9 months, strabismus surgery at 14 months old, cleft palate repair at 17 months, and a second aortic root replacement with valve replacement at 9 years.
Related Knowledge Centers
- Birth Defect
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- Otitis Media
- Palate
- Nasal Cavity
- Lip
- Prenatal Development
- Risk Factor
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