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Cleft lip and palate: developmental abnormalities of the face, mouth and jaws
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
Although most clefts of the lip and palate occur as an isolated deformity, Pierre Robin sequence is an important association. This sequence comprises isolated cleft palate, ret- rognathia and a posteriorly displaced tongue (glossoptosis), which is associated with early respiratory and feeding difficulties.
Nasal emission, cleft lip and palate
Published in James Law, Alison Parkinson, Rashmin Tamhne, David Hall, Communication Difficulties in Childhood, 2017
Though the majority of babies with cleft lip and palate are not syndromic there are a number of described complex syndromes in association with isolated cleft palate, e.g. Velo-Cardio-Facial syndrome. As time goes by the detection of syndromes associated with isolated cleft palate is increasing to the extent that it is good practice to carry out chromosomal analysis on all babies born with isolated cleft palate. The Pierre Robin sequence (a combination of a cleft palate and a small lower jaw) is not inherited in the vast majority of cases. It is thought to be a developmental abnormality relating to the fetal compression in the uterus, perhaps due to oligohydramnios compressing the chin against the chest restricting growth of the lower jaw and also forcing the tongue into the nasal cavity, preventing natural fusion of the palatal shelves leading to cleft palate. This theory is supported by the fact that in the majority of Pierre Robin children, the projection of the lower jaw becomes normal in due course.
Genetics in neonatal surgical practice
Published in Prem Puri, Newborn Surgery, 2017
A sequence can be defined as a group of anomalies that arise due to one single event. An example would be Potter’s sequence. Potter’s sequence (Figure 22.15) is the group of anomalies consisting of pulmonary hypoplasia, oligohydramnios, talipes, cleft palate, and hypertelorism. All of these anomalies arise as a result of the failure of urine production in the fetus. The cause of Potter’s syndrome and failure of urine production could be posterior urethral valves, dysplastic or cystic kidneys, or renal agenesis, all of which can have genetic, nongenetic, or chromosomal origins. Pierre Robin sequence is the grouping of cleft palate, micrognathia, and glossoptosis, which can have at least 30 different causes. A sequence therefore does not have a specific cause or inheritance pattern.
Outcome of the ‘waiting until spontaneous extrusion’ strategy for long-term tympanostomy tube placement in children with cleft palate
Published in Acta Oto-Laryngologica, 2022
Yuri Nomura, Hidetoshi Oshima, Kazuhiro Nomura, Risako Kakuta, Ryoukichi Ikeda, Ai Kawamoto Hirano, Jun Ota, Tetsuaki Kawase, Yukio Katori
This study retrospectively reviewed the medical charts of all children with CP who regularly visited the Department of Otolaryngology-Head and Neck Surgery, Tohoku University Hospital, from December 2016 to November 2017 and who received long-term VT placement (Tympanic drain type B, #1542 KOKEN, Tokyo, Japan) for the first time at our department (Figure 1). Information, including age at the time of VT insertion, age at the time of VT loss (spontaneous extrusion or surgical removal), status of the tympanic membrane after the VT loss, cleft severity, and other coexisting congenital anomalies, was collected from children’s medical records. Regarding cleft severity, we divided the cleft into four categories according to the Veau classification [11]: clefts of the soft palate (I), clefts of the soft and hard palate up to the incisive foramen (II), clefts of the soft and hard palate extending unilaterally through the alveolus (III), and clefts of the soft and hard palate extending bilaterally through the alveolus (IV). Cleft severity increased in ascending order. Other coexisting congenital anomalies included the Pierre Robin sequence, CHARGE syndrome, and Down syndrome.
Surgical, speech, and hearing outcomes at five years of age in internationally adopted children and Swedish-born children with cleft lip and/or palate
Published in Journal of Plastic Surgery and Hand Surgery, 2020
Johnna Sahlsten Schölin, Åsa Jonasson, Jessica Axelsson, Christina Havstam, Christina Persson, Radi Jönsson, Hans Mark
Many studies have described difficulties regarding general health, malnutrition, development, and associated anomalies in IAC [10–13,26,27]. Importantly, these factors could potentially affect treatment outcomes. Swanson et al. [2] observed improvements in all growth percentiles soon after adoption. As this suggests improvements in nutritional status and well-known corresponding impacts on wound healing, the authors raised the question of whether a pre-operative catch-up growth period should be considered for IAC. This was not specifically studied in this material since larger cohorts would be necessary to draw conclusions on this issue. In this study, we encountered one adopted child with Pierre Robin sequence in the CP group. In the Swedish-born group, we observed two children with Pierre Robin sequence in the CP group and one child with Van der Woude syndrome in the UCLP. We chose to include these children since they did not affect the results. The only Swedish-born child that underwent additional surgery had Van der Woude syndrome.
Additional diagnoses in children with cleft lip and palate up to five years of age
Published in Journal of Plastic Surgery and Hand Surgery, 2023
Ellen Aspelin, Måns Cornefjord, Kristina Klintö, Magnus Becker
In this study, the prevalence of the Pierre Robin sequence registered in medical records was higher than that registered in the CLP registry. Overreporting in medical records is probably more common when a child has a small chin and isolated CP, due to the difficulties in distinguishing between Pierre Robin sequence and isolated CP [23]. The high prevalence of Pierre Robin sequence within the CP group can be explained by its aetiology [10,11]. No syndromes were found within the CL group, which supports the thesis that a more extensive cleft seems to be associated with a higher risk of additional diagnoses [15].