Antley-Bixler syndrome is a very rare disese of characteristic feature of craniosynostosis, brachycephaly, midface hypoplasia, depressed nasal bridge, radiohumeral synostosis and bowing femur. We presented a case of Antley-Bixtler syndrome with brief review of lituratures.
Antley-Bixler Syndrome Phenotype* ; Craniosynostoses ; Femur ; Synostosis

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.
Acrocephalosyndactylia ; Antley-Bixler Syndrome Phenotype ; Cranial Sutures ; Craniofacial Dysostosis ; Craniosynostoses* ; Diagnosis ; Genetic Counseling ; Humans ; Skull ; Sutures ; Synostosis ; Wills

Antley-Bixler syndrome is a congenital anomaly of multiple bones and cartilage, and this was first reported by Antley and Bixler in 1975. It is characterized by craniosynostosis, midface hypoplasia with choanal stenosis and atresia, radiohumeral synostosis and femoral bowing. This is sometimes accompanied by cardiac, renal, gastrointestinal and genital malformations. The risk of respiratory distress is high in the infants with this syndrome, and this is most commonly caused by choanal stenosis and atresia. Careful anesthetic management is needed for these infants because of the potential risk of a difficult airway and respiratory complications. We report here on our experience with the anesthetic management of a neonate with Antley-Bixler syndrome and we review the relevant literature.
Anesthesia ; Antley-Bixler Syndrome Phenotype ; Cartilage ; Constriction, Pathologic ; Craniosynostoses ; Humans ; Infant ; Infant, Newborn ; Synostosis

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.
Acrocephalosyndactylia ; Child ; Congenital Abnormalities ; Craniosynostoses ; Ear ; Extremities ; Genetic Counseling ; Hearing Loss ; Humans ; Hypertelorism ; Korea ; Molecular Biology ; Syndactyly ; Synostosis ; Toes

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Antley-Bixler Syndrome Phenotype* ; Coccyx ; Congenital Abnormalities ; Craniosynostoses ; Cryptorchidism ; Disorders of Sex Development ; Female ; Fludrocortisone ; Hand ; Humans ; Hydrocortisone ; Infant, Newborn ; Inheritance Patterns ; Kyphosis ; Male ; Mass Screening ; Molecular Biology ; Parturition ; Phenotype ; Population Characteristics ; Spine ; Synostosis ; Tracheostomy

No abstract available.
Synostosis*

Apert Syndrome is a kind of developmental disorder characterized by the craniosynostosis by synostosis of the coronal suture, bilateral symmetric syndactyly of the limbs (mitten-like hands and feet), midfacial hypoplasia, and variable degree of mental retardation. In 1894, Wheaton did the first description, and in 1906, it was named by Apert. Apert Syndrome is a rare autosomal dominent disorder and the prevalance at birth is estimated from 1:100000 to 160000. This syndrome is developed by the result of a mutation in the fibroblast growth factor receptor 2 gene (FGFR 2) located at 10q25.3-26. In familial cases, diagnosis in the first trimester sometimes has been made. But In sporadic cases, mostly it has been diagnosed in the second or third trimester by ultrasonography. In Korea, Apert syndrome is so rare, and it has not yet been reported that Apert syndrome is defined by prenatal molecular diagnosis with ultrasonographic detection. We present a case of prenatal molecular definitive diagnosis of Apert syndrome suspected strongly by ultrasonographic finding with a brief review of literature. Mother of affected fetus was transferred to our hospital at 31(2) weeks' gestation due to abnormal fetal ultrasound finding of severe polyhydroamnios and bilateral syndactyly of hands detected at 26(3) weeks' gestation. We suspected Apert syndrome by fetal ultrasonographic finding, and then confirmed Apert syndrome by DNA analysis of fetal amniocyte from therapeutic amnioredution at 31(4) weeks' gestation.
Acrocephalosyndactylia* ; Craniosynostoses ; Diagnosis* ; DNA ; Extremities ; Female ; Fetus ; Hand ; Humans ; Intellectual Disability ; Korea ; Mothers ; Parturition ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Third ; Receptor, Fibroblast Growth Factor, Type 2 ; Sutures ; Syndactyly ; Synostosis ; Ultrasonography

OBJECTIVE: Activating mutations in the fibroblast growth factor receptor-2 (FGFR2) have been shown to cause syndromic craniosynostosis such as Apert and Crouzon syndromes. The purpose of this pilot study was to investigate the resultant phenotypes induced by the two distinctive bone-targeted gene constructs of FGFR2, Pro253Arg and Cys278Phe, corresponding to human Apert and Crouzon syndromes respectively. METHODS: Wild type and a transgenic mouse model with normal FGFR2 were used as controls to examine the validity of the microinjection. Micro-CT and morphometric analysis on the skull revealed the following results. RESULTS: Both Apert and Crouzon mutants of FGFR2 induced fusion of calvarial sutures and anteroposteriorly constricted facial dimension, with anterior crossbite present only in Apert mice. Apert mice differed from Crouzon mice and transgenic mice with normal FGFR2 in the anterior cranial base flexure and calvarial flexure angle which implies a possible difference in the pathogenesis of the two mutations. In contrast, the transgenic mice with normal FGFR2 displayed normal craniofacial phenotype. CONCLUSION: Apert and Crouzon mutations appear to lead to genotype-specific phenotypes, possibly causing the distinctive sites and sequence of synostosis in the calvaria and cranial base. The exact function of the altered FGFR2 at each suture needs further investigation.
Acrocephalosyndactylia ; Animals ; Craniofacial Dysostosis* ; Craniosynostoses ; Fibroblast Growth Factors ; Humans ; Malocclusion ; Mice ; Mice, Transgenic ; Microinjections ; Phenotype ; Pilot Projects ; Skull ; Skull Base ; Sutures ; Synostosis

Poland's syndrome is congenital anomaly which was described first by Alfred Poland in 1841. The clinical features are variable but always include congenital aplasia of fingers and syndactyly. We have experienced a case of Poland's syndrome. This case was male children and revealed thoracic anomaly of right side (absence of pectoral muscles and anterior axillary fold), atrophy of forearm muscles, ipsilateral syndactyly with aplasia of thumb and middle phalanges of 2, 3, 4, 5,th fingers, and ipsilateral congenital radio-ulnar synostosis.
Atrophy ; Child ; Fingers ; Forearm ; Humans ; Male ; Muscles ; Poland ; Syndactyly ; Synostosis ; Thumb

Apert described acrocephalosyndactly as a clinical entity in 1906. The classic description of this syndrome includes patient with a combination of acrocephaly and syndactyly of either fingers, toes or both. More than 200 cases have been reported in the world literature. Authors experienced on case of the classic pattern of Apert syndrome and treated surgically for syndactyly. This one case was reported on this paper with brief review of the relevant literatures.
Acrocephalosyndactylia ; Craniosynostoses ; Fingers ; Humans ; Syndactyly ; Toes