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A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

ABSTRACT: Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpatient clinic for cleft palate reconstruction. Our neurosurgeon cautioned us against performing surgery with extension of the neck in view of the possibility of producing quadriparesis, due to narrowing of the spinal canal as part of the osseous anomaly noted in the magnetic resonance imaging study of the spine, thus making the anaesthesia, surgical and post-operative procedures difficult. The cleft palate reconstruction was performed with all precautions and was uneventful.

SUBMITTER: Pasupathy M

PROVIDER: S-EPMC5053001 | biostudies-literature | 2016 May-Aug

REPOSITORIES: biostudies-literature

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A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

Pasupathy M M Radhakrishnan Vasant V Adenwalla Hirji Sorab HS Narayanan Puthucode V PV

Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India 20160501 2

Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in <i>SOX9</i> gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referr ...[more]

PMID: 27833291

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Project description:ObjectiveThis study aimed to identify clinical bottle-feeding techniques practiced by nurses for children with cleft lip and palate experiencing feeding difficulties.MethodsA qualitative descriptive design was used. Five anonymous questionnaires were distributed to each hospital, and 1,109 hospitals with obstetrics, neonatology, or pediatric dentistry wards in Japan were enrolled in the survey between December 2021 and January 2022. Participants were nurses working for over 5 years providing nursing care for children with cleft lip and palate. The questionnaire comprised open-ended questions about the feeding techniques across four dimensions: preparation before bottle-feeding, nipple insertion methods, sucking assistance, and criteria for stopping bottle-feeding. The qualitative data obtained were categorized according to meaning similarity and analyzed.ResultsA total of 410 valid responses were obtained. The findings regarding the feeding techniques in each dimension were as follows: seven categories (e.g., improving child's mouth movement, keeping child's breath calm), 27 sub-categories in preparation before bottle-feeding; four categories (e.g., closing the cleft using the nipple to create negative pressure in oral cavity, inserting the nipple to not touch the cleft), 11 sub-categories in nipple insertion methods; five categories (e.g., facilitating awakening, creating negative pressure in oral cavity), 13 sub-categories in sucking assistance; and four categories (e.g., reduced awakening level, worsening vital signs), 16 sub-categories in criteria for stopping bottle-feeding. Most participants responded that they would like to learn bottle-feeding techniques for children with cleft lip and palate who have feeding difficulties.ConclusionMany bottle-feeding techniques were identified to address disease-characterized conditions. However, the techniques were found to be conflicting: some inserted the nipple to close the cleft to create negative pressure in the child's oral cavity, while others inserted it without touching the cleft to prevent ulceration on the nasal septum. Although these techniques were used by nurses, the effectiveness of the methods has not been assessed. Future intervention studies are needed to determine each technique's benefit or potential harm.

Dataset Information

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

Publications

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

Similar Datasets

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