Dominant inheritance of cleft palate with minor abnormalities of hands and feet

1999 ◽  
Vol 8 (3) ◽  
pp. 193???198 ◽  
Author(s):  
E. P. E. Kirk ◽  
M. Wilson
2019 ◽  
Vol 11 (4) ◽  
Author(s):  
Makoura Barro ◽  
Yahaya S. Ouedraogo ◽  
Fatimata S. Nacro ◽  
Bintou Sanogo ◽  
Solange O. Kombasséré ◽  
...  

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.


2002 ◽  
Vol 11 (4) ◽  
pp. 237-241 ◽  
Author(s):  
F. McKenzie ◽  
A. Turner ◽  
S. Withers ◽  
P. Dalzell ◽  
M. McGlynn ◽  
...  

1956 ◽  
Vol 5 (S1) ◽  
pp. 257-293
Author(s):  
Hans Grebe

SUMMARYReport about examinations in the families of 24 children with severe, lethal malformations of the heart. At all probands, who had died before 6th month of life, the, cause of death could be insured by autopsy.Under 16 children with lethal defects of the septum 6 suffered from mongolism (additional one with enterocystom of oesophagus, one with double inguinal rupture, one with cleft palate and one with microcephaly and atresia of the duodenum). In none of these families any sign for heredital cause or « ovarial insufficience » of the mother could be found.In the families of 10 children with defect of the septum without additional malformation two times the clinical examinations of the mother showed distinct symptoms of heart decompensation without evidence for acquired heart diseases. In two other families beside the probands other family-members with inborn heart diseases could be found, one time an autoptical proved defect of the septum at a cousin of our probands father.During these families seem to show heredity of lethal defects of the septum in an irregular dominant inheritance, only one time in an «isolated » case of lethal defects of the septum the cause of the malformation may be seen in severe bleedings of the mother during pregnancy.In an earlier report about similiar examinations two siblings could be found, one of them had only a defect of the septum, the other had beside a defect of septum, a severe harelip and cleft palate, a hernia diaphragmatica, a hypoplasia of the fingers and a microcephalia combined with arhinencephalia. The father of another child with a defect of the septum suffered from coloboma of the iris.It is supposed, that there are several gens to septum defects, that means Heterogenie. Polyphenical effects of the gens result differential forms of manifestation, not only at the heart. There were no differences found on homozygotics and heterozygotics.Among 8 children with differential other malformations of the heart (5 cases of severe stenosis of the aorta, 1 case of malformation of the pulmonal valve, 1 case of trasposition of the big arterias) only one time could be found the same anomaly (open foramen ovale, open ductus arteriosus) on two cousins (each of them have an non dissecated brother with equal clinical symptoms). Because the parents were non blood-related also in this family an unregular dominant inheritance of the anomalies at the foramen ovale and the ductus arteriosus seems probable.Systematical examination in families with lethal malformations are further equal necessary as explications of pregnancy harms for exclusion of exogen factors.


2012 ◽  
Vol 06 (01) ◽  
pp. 110-113 ◽  
Author(s):  
Zehra Ileri ◽  
Yasar Bedii Goyenc

ABSTRACTThe purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatmentThe patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly of the hands and feet, hypertelorism, proptosis and cleft palate. After taking maxillary impression, an acrylic appliance was applied to orientate the growing and enable the feedingA case with Apert syndrome undergoes the orthodontic treatment for a long time and also a multidisciplinary approach is essential to determine the best collaborative corrective plan for the deficiencies of the patient. (Eur J Dent 2012;6:110-113)


Author(s):  
Kim Armfield ◽  
Retecher Nelson ◽  
Herbert A. Lubs ◽  
Bernhard H�ne ◽  
Richard J. Schroer ◽  
...  

1975 ◽  
Vol 6 (3) ◽  
pp. 119-124 ◽  
Author(s):  
Robert T. Wertz ◽  
Michael D. Mead

Typical examples of four different speech disorders—voice, cleft palate, articulation, and stuttering—were ranked for severity by kindergarten, first-grade, second-grade, and third-grade teachers and by public school speech clinicians. Results indicated that classroom teachers, as a group, moderately agreed with speech clinicians regarding the severity of different speech disorders, and classroom teachers displayed significantly more agreement among themselves than did the speech clinicians.


2020 ◽  
Vol 51 (4) ◽  
pp. 914-938
Author(s):  
Anna Cronin ◽  
Sharynne McLeod ◽  
Sarah Verdon

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007 ) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices.


1965 ◽  
Vol 30 (2) ◽  
pp. 166-173 ◽  
Author(s):  
Alta R. Brooks ◽  
Ralph L. Shelton ◽  
Karl A. Youngstrom

Sign in / Sign up

Export Citation Format

Share Document