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Revue Medicale de Liege Oct 2021Apert syndrome, or acrocephalosyndactilia type I, is a rare genetic disorder caused by mutations in the FGFR2 gene and characterized by craniosynostosis, craniofacial...
Apert syndrome, or acrocephalosyndactilia type I, is a rare genetic disorder caused by mutations in the FGFR2 gene and characterized by craniosynostosis, craniofacial dysmorphia and symmetrical syndactyly of the hands and feet. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. This syndrome presents significant clinical variability and its early diagnosis is essential. We report an isolated case of Apert syndrome, diagnosed during follow-up of a biamniotic bichorium twin pregnancy.
Topics: Acrocephalosyndactylia; Craniosynostoses; Female; Humans; Mutation; Pregnancy; Receptor, Fibroblast Growth Factor, Type 2; Syndactyly
PubMed: 34632738
DOI: No ID Found -
Romanian Journal of Morphology and... 2017Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert...
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy. The diagnosis of Apert syndrome was placed on clinical signs, laboratory and genetic tests. The clinical outcome of the baby in the maternity was favorable, the therapeutic management being established by a multidisciplinary team. Immediate complications were due to the case of prematurity: respiratory distress syndrome and the characteristics of the syndrome: micrognathia and naso-facial dysmorphism, syndactyly, bilateral foot metatarsus adductus.
Topics: Acrocephalosyndactylia; Female; Humans; Infant, Newborn; Pregnancy; Reticulocytosis; Syndactyly
PubMed: 28523332
DOI: No ID Found -
Hormones (Athens, Greece) 2013An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements...
An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth. All extremities appeared short with stubby fingers and toes and with broad hands and wrinkling of the dorsal skin. Chromosomal analysis showed a normal (46, XY) karyotype. X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands. Serum calcium and alkaline phosphatase levels were high, parathormone (PTH) was low, but 25 (OH) Vitamin D, albumin, and 24 hour urine calcium levels were in the normal range. Based on these findings, a diagnosis of acrodysostosis associated with hypercalcemia was made. To the best of our knowledge, this represents the first description of this syndrome.
Topics: Adolescent; Ataxia; Diagnosis, Differential; Dysostoses; Hand Bones; Humans; Hypercalcemia; Intellectual Disability; Male; Osteochondrodysplasias; Pseudohypoparathyroidism; Radiography
PubMed: 23933701
DOI: 10.14310/horm.2002.1416 -
Neurology India 2019
Topics: Adolescent; Breast; Breast Diseases; Congenital Abnormalities; Humans; Male; Poland Syndrome
PubMed: 31512674
DOI: 10.4103/0028-3886.266297 -
Tidsskrift For Den Norske Laegeforening... May 2004Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying... (Review)
Review
BACKGROUND
Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities.
MATERIAL AND METHODS
On the basis of relevant literature, we present a review of syndromal craniofacial synostosis.
RESULTS
Phenotypically, the complex craniofacial syndromes have many similarities. Synostosis of the sutures of the cranial vault can result in a variety of skull deformations, depending on the sutures involved, the sequence of premature closure, and the time of closure. Synostosis of the sutures in the skull base and facial skeleton leads to shallow orbits, exophthalmus, hypertelorism, midface retrusion, and prognathia.
INTERPRETATION
Precise diagnosis of complex craniofacial syndromes may be difficult solely on the basis of a clinical examination. However, several of the most common syndromes are caused by mutations in genes that code for fibroblast growth-factor receptors. Children with a suspected complex craniofacial syndrome should be referred to genetic testing.
Topics: Acrocephalosyndactylia; Craniosynostoses; Humans; Infant; Infant, Newborn; Mutation; Phenotype; Receptors, Fibroblast Growth Factor
PubMed: 15131704
DOI: No ID Found -
Dermatology Online Journal Mar 2005
Topics: Acrocephalosyndactylia; Child; Humans; Hyperhidrosis; Male
PubMed: 15748556
DOI: No ID Found -
Indian Journal of Ophthalmology Sep 1974
Topics: Adult; Craniofacial Dysostosis; Humans; Male
PubMed: 4465291
DOI: No ID Found -
International Journal of Pediatric... Apr 2018Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the...
OBJECTIVE
Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the potential burden of care and impact of CFM on multiple domains of functioning, few studies have investigated patient and caregiver perspectives. The objective of this study was to explore the diagnostic, treatment-related, and early psychosocial experiences of families with CFM with the aim of optimizing future healthcare delivery.
METHODS
Forty-two caregivers and nine adults with CFM responded to an online mixed-methods survey. Descriptive statistics and qualitative methods were used for the analysis.
RESULTS
Survey respondents reported high rates of subspecialty evaluations, surgeries, and participation in therapies. Some participants reported receiving inaccurate or incomplete information about CFM and experienced confusion about etiology. Communication about CFM among family members included mostly positive messages. Self-awareness of facial differences began at a mean age of three years and teasing at mean age six, with 43% of individuals four years or older reporting teasing. Teasing often involved name-calling and frequent reactions were ignoring and negative emotional responses. Participants ranked "understanding diagnosis and treatment" as a top priority for future research and had the most questions about etiology and treatment guidance.
CONCLUSIONS
The survey results on the healthcare and psychosocial experiences from birth through adulthood of individuals with CFM reinforce the need for ongoing psychological assessment and intervention. Healthcare provision could be improved through establishing diagnostic criteria and standardized treatment guidelines, as well as continued investigation of CFM etiology.
Topics: Adolescent; Adult; Caregivers; Child; Child, Preschool; Culture; Delivery of Health Care; Female; Goldenhar Syndrome; Health Surveys; Humans; Infant; Male; Patients; Physician-Patient Relations
PubMed: 29501301
DOI: 10.1016/j.ijporl.2018.02.007 -
Journal of the American Veterinary... Dec 2004
Review
Topics: Animals; Cat Diseases; Cats; Dog Diseases; Dogs; Dysostoses; Extremities; Osteogenesis
PubMed: 15626218
DOI: 10.2460/javma.2004.225.1685 -
Journal of Korean Medical Science Apr 2006Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in... (Review)
Review
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
Topics: Acrocephalosyndactylia; Female; Humans; Infant, Newborn; Korea; Radiography
PubMed: 16614535
DOI: 10.3346/jkms.2006.21.2.374