A case of Crouzon's disease, in spite of the relatively small number of cases reported until recently. The patient was 3years old male and hospitalized Woo-Sok University hospital 5 May, 1970. the appearance of the patient was striking type of facial deformity. There is a marked frontal boss forming a prominent bregmatic tumour, hooked nose, a small receding maxilla and a pronounced prognathism in wthich the teeth of the lower jaw protrude several centimetres beyond those of the upper. Proptosis and subnormal mentality was present, Cerebral decompression had been performed to the patient for his exophthalmos, it was aggreviated after the operation and thus enucleation was done finally.
Congenital Abnormalities ; Craniofacial Dysostosis* ; Decompression ; Exophthalmos ; Humans ; Jaw ; Male ; Maxilla ; Nose ; Prognathism ; Strikes, Employee ; Tooth

Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2 (FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she was found to have Cys342Ser mutation in FGFR2 exon lllc which has been previously observed in Jackson-Weiss syndrome. This finding supports the variable expression of FGFR2 in human and allelic heterogeneity in these apparently clinically distinct craniosynostotic conditions.
Acrocephalosyndactylia ; Child ; Craniofacial Dysostosis* ; Craniosynostoses ; Exons* ; Exophthalmos ; Humans ; Hypertelorism ; Population Characteristics ; Prognathism ; Receptor, Fibroblast Growth Factor, Type 2

To make better clinical diagnosis, authors reviewed 9 patients of nonchromosomal multiple malformation disorders with psychomotor retardation, who were evaluated at pediatric department of Yeungnam University hospital for recent 2 years. We could make clinical diagnosis in 5 patients out of 9 as Aarskog syndrome, BeckwithWiedemann syndrome, Hallermann-Streiff syndrome, Rubinstein Taybi syndrome and Weaver syndrome. But even in diagnosed cases, there were many discrepant findings in comparison with typical cases of reference literatures and family history was positive in only one case. Moreover we could not make diagnosis in 4 patients. Therefore we think it is necessary to make a survey of unique pattern, incidence, distribution and etiologic factors of malformation disorders in our country by geneticist and pediatrician as well as to improve the laboratory aids for better diagnosis and genetic counseling.
Diagnosis ; Genetic Counseling ; Hallermann's Syndrome ; Humans ; Incidence ; Rubinstein-Taybi Syndrome

Pierre Robin sequence as a symptom triad of micrognathia, glossoptosis, and cleft palate results in upper airway obstruction and feeding problems. If mild, it is often managed in the prone position. When positional treatment fails, however, surgical intervention such as tongue-lip adhesion, tracheostomy, and mandibular distraction osteogenesis is mandatory to relieve airway obstruction. There has been growing interest in the application of distraction osteogenesis for the management of craniofacial abnormalities. The mandibular distraction osteogenesis to newborns may prevent the airway obstruction, decrease the potential tracheostomy, and reduce the likehood of orthognathic surgery after growth. We experienced an infant with Pierre Robin sequence who showed mandibular hypoplasia, glossoptosis, incomplete cleft palate, intermittent cyanos is, depression of the chest, and respiratory difficulty associated with airway obstruction. We treated the airway obstruction by tongue-lip adhesion at 2 weeks of age, and treated the mandibular retrognathism and depression of the chest byusing internal mandibular distraction osteogenesis at 7 month of age. The mandible moved forwardly, the upper airway space was enlarged, and the antero-posterior distance of the mandible was elongated after the mandibular distraction. Mandibular distraction osteogenesis may be a promising technique to avoid the need of tracheostomy and orthognathic surgery, and to correct airway obstruction in infants with congenital craniofacial malformation.
Airway Obstruction ; Cleft Palate ; Craniofacial Abnormalities ; Depression ; Humans ; Infant ; Infant, Newborn ; Mandible ; Orthognathic Surgery ; Osteogenesis, Distraction ; Pierre Robin Syndrome ; Prone Position ; Retrognathia ; Songbirds ; Thorax ; Tracheostomy

Bilateral mandibular hypoplasia is found in Treacher Collins syndrome, Pierre Robin sequence, and bilateral craniofacial microsomia. It causes many aesthetic and functional problems such as facial deformities with malocclusion and airway problems. We have corrected bilateral hypoplastic mandible with distraction osteogenesis, which is a highlighted method in mandibular lengthening. For last 3 years 8 months, We applied this method to four bilateral cases, where were Treacher Collins syndrome patients and bilateral craniofacial microsomia patient in rapid multidirectional fashion. A complete ostectomy was made at angle of the mandible and the mandible was fixed 5 days after lengthening was started serially 1mm every 12 hours. After consolidation period for one to three month, the device was removed. We have distracted the mandibles in vertical plane, left.18.8mm, right. 13.4mm, in horizontal plane, left 13.9mm, right 13.7mm on the average. We could achieve good aesthetic results, and their airway problems were improved without any complications.
Congenital Abnormalities ; Goldenhar Syndrome ; Humans ; Malocclusion ; Mandible* ; Mandibulofacial Dysostosis ; Osteogenesis, Distraction ; Pierre Robin Syndrome

Normally the cranial bones are closed finally in early adulthood; thus, premature closure of one or more sutures of the skull results in a head deformity producing damaging effects to the brain and eyes. The authors presented a case of Crouzon's disease which was characterized by shallow orbit, exophthalmos, maxillary hypoplasia and a prominent jaw. And the literatures relating to this disease were briefly reviewed.
Brain ; Congenital Abnormalities ; Craniofacial Dysostosis* ; Exophthalmos ; Head ; Jaw ; Orbit ; Skull ; Sutures

Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal skull and face can increase the detection rate. When an abnormality is found, it is important to perform a detailed scan to determine its severity and search for additional abnormalities. The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some syndromes is feasible if the family history is suggestive.
Brain ; Chromosome Aberrations ; Cleft Palate ; Cranial Sutures ; Craniofacial Abnormalities* ; Craniosynostoses ; Female ; Fetus ; Humans ; Magnetic Resonance Imaging ; Micrognathism ; Palate ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis ; Skull ; Ultrasonography ; Ultrasonography, Prenatal*

Crouzon's disease is a peculiar type of craniosynostosis which is premature closure of the suture, and deformities of craniofacial bone. Such a many deformities are caused by continuing brain growth unrelated to damaged bone growth. The authors presented a case of Crouzon's disease in a 4-year old male patient who has characteristic clinical findings with particular sensory neural type hearing loss and generalized seizure.
Bone Development ; Brain ; Child, Preschool ; Congenital Abnormalities ; Craniofacial Dysostosis* ; Craniosynostoses ; Hearing Loss ; Humans ; Male ; Seizures ; Sutures

In 1912, Crouzon reported one of craniofacial dysostosis, which was inherited as an autosomal dominant trait and characterized by craniosynostosis, midface hypoplasia, and exorbitism. In 1950, the first midface advancement was performed by means of a total facial osteotomy by Sir Harold Gillies. In 1967, Tessier accomplished complete craniofacial dysjunction by performing Le Fort III-Tessier I osteotomy on the basis of Le Fort III fracture and laid the foundation for modern craniofacial surgery. Variable combinations of the surgeries and osteotomies are performed considering functional disabilities as well as patient's age, general condition, and aesthetic problems. The nineteen-year-old female patient complained of frog-like face and showed severe exorbitism and midface hypoplasia, while the occlusion, being relatively normal. We applied modified Le Fort III osteotomy and fronto- orbital advancement. Over the follow-up period of six months, her previous normal occlusion was preserved and the exorbitism and midface deformity largely improved aesthetically.
Congenital Abnormalities ; Craniofacial Dysostosis* ; Craniosynostoses ; Female ; Follow-Up Studies ; Humans ; Orbit ; Osteotomy*

Craniofacial dysostosis is considered to be one of rarely observed syndromes characterized by premature closing of all cranial sutures. The first patient was a 4-year-old male infant who had been complaining of empyema. Clinical findings showed exophthalmos, hypertelorism and facial asymmetry. Conventional radiographs demonstrated abscence of cranial sutures and underdeveloped maxilla. CT scan demonstrated the digital impressions of the inner surface of the cranial vault, enlarged and depressed sella turcica. The second patient was a 2-year-old female infant who had been complaining of facial deformity. Clinical findings showed hypertelorism and underdeveloped maxilla. Radiographs showed premature synostosis of all cranial sutures, depressed and enlarged sella turcica, and hypoplastic maxilla. 3 years after operation, her look improved. However, resurgery may be considered to decreasing intracranial pressure and for correction of facial deformity. Two interesting cases showing 'cloverleaf'skulls were presented.
Child, Preschool ; Congenital Abnormalities ; Cranial Sutures ; Craniofacial Dysostosis* ; Empyema ; Exophthalmos ; Facial Asymmetry ; Female ; Humans ; Hypertelorism ; Infant ; Intracranial Pressure ; Male ; Maxilla ; Sella Turcica ; Synostosis ; Tomography, X-Ray Computed