Asphyxia ; etiology ; Child ; Dysostoses ; complications ; Female ; Humans ; Osteochondrodysplasias ; Thorax ; abnormalities

Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients, and thus far now over 30 published cases have been reported worldwide. Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion of the epiphyses, and advanced bone age. Most patients do relatively well except for the problems of mental deficiency and arthritic complaints. Progressive restriction of movement of the hands, elbows, and spine may occur. Recently, we experienced a case of acrodysostosis in and 11-year-old boy who presented with short stature, short hands and feet, nasal hypoplasia, mental retardation, and typical radiographic findings including severe shortening of metacarpals, metatarsals and phalanges, cone-shaped epiphyses of the hands and feet.
Child ; Dysostoses ; Elbow ; Epiphyses ; Foot ; Hand ; Humans ; Intellectual Disability ; Male ; Metacarpal Bones ; Metatarsal Bones ; Spine

OBJECTIVETo explore the factor of age related to protraction response.

METHODSFour 12-week mongrel dogs in the same nest were randomly assigned into two groups: the control (n = 1) and the experimental groups (n = 3). Four pairs of titanium bone markers were fixed on either side of the bone sutures of all animals. Distraction device was fitted in the experimental group, A forward elastic force was exerted through the device for 1 month. Midface skeleton protraction was applied to experimental group at different age. Dog 2 was started at 12 weeks of age. Dog 3 was started at 16 weeks of age. Dog 4 was started at 20 weeks of age. The protraction force was 600g. All the animals were sacrificed at their age of 9 months. The results were evaluated clinically, radiographically, and cephalometrically.

RESULTSAll the animals in the experimental group showed progressively forward movement of the maxilla at the end of the experiment. In the same condition, the younger age appeared to have more effective in treatment than the older age. After 3 approximately 4 weeks stagnation, the maxilla gradually recovered normal growth.

CONCLUSIONThe younger age lead more effective protraction than the older age. Persistent elastic distraction at the medium position of midface brought stable effects and no influence on facial growth.

Age Factors ; Animals ; Dogs ; Dysostoses ; surgery ; Maxilla ; growth & development ; Orthodontic Extrusion ; methods ; Osteogenesis, Distraction ; methods ; Time

Adolescent ; Carpal Bones ; Cleft Lip ; Dysostoses ; Extremities ; Female ; Hand ; Humans ; Intelligence ; Metatarsus ; Radius ; Thumb

Metaphyseal Chondrodysplasia is rare, hereditary disease characterized by defective enchondral bone formation with major manifestation at the metaphysis. Jansen originally used the term metaphyseal dysostosis in 1934 to describe a patient who has a short stature with irregular metaphysis of the lower extremity and hands. Schmid reported a milder form of Metaphyseal dysostosis in 1949, which is more common and is transmitted in autosomal dominant trait. Mukusick reported another form of Metaphyseal Chondrodysplasia which is associated with ectodermal abnormalities in 1964. The other different types were reported alos, but they are extremly rare. The basic defect in the disease may be the failure of hypertrophic cells to mature and degenerate, caused by a block in or deficiency of enzymes of glycolytic cycle. The skull and spine are spared. Serum chemistry and kidney function are normal. The only treatment necessary, once adequate diagnosis has been estabilished, is careful observation and properly timed corrective orthopaedic surgery. We experienced one case of Schmid Type Metaphyseal Chondrodysplasia. Corrective osteotomy was performed and satisfactory result was obtained.
Chemistry ; Diagnosis ; Dysostoses ; Ectoderm ; Genetic Diseases, Inborn ; Hand ; Humans ; Kidney ; Lower Extremity ; Osteogenesis ; Osteotomy ; Skull ; Spine

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.
Adult ; Airway Obstruction ; Dysostoses ; Edema ; Extremities ; Female ; Genitalia ; Humans ; Infant ; Mandibulofacial Dysostosis ; Monosomy* ; Parturition ; Polyhydramnios ; Pregnancy ; Synostosis ; Thumb ; Tongue ; Wills

The management of orbital dystopia has ranged from camouflage procedure for minor deformity to vertical translocation of the displaced orbit for severe deformity. The purpose of this study is to provide a guideline for the selection of an appropriate surgical treatment according to the degree of the dystopia. Since 1989, 18 patients with orbital dystopia have been treated for all cosmetic reasons. There were 13 females and 5 males aged from 8 to 46 years (mean 18.8 years). Underlying pathology in our cases included traumatic (orbital floor and wall fractures and irradiation)(44%); congenital (cleidocranial dysostosis, dermoid cyst, facial clefts and idiopathic causes)(40%); and fibrous dysplasia(16%). In the coronal plane, thr orbital displacement ranged from 2 to 7 mm(mean 3.9 mm). Patients were grouped into severe(n=8), moderate(n=6), and mild(n=4) degree of dystopia. Orbital repositioning, such as vertical repositioning of the functional orbit, bone shaving, autogenous bone graft and alloplastic material implantation were performed in severe cases(>4 mm). Various eye leveling technique, such as autogenous bone onlay graft, alloplastic material implantation, medial and superior rotation of zygoma, and medial and lateral canthoplasties were performed in moderate (3 mm) and mild (< 2 mm) cases. The postoperative surgical result was assessed by ordinary scale method cephalometric analysis. There was no visual loss, infection, epilepsy, or asethetic complication. The preoperative findings of orbital dystopia were corrected or significantly improved following surgery in all patients after an average follow-up period of 59.2 months. The result of this study indicate that our method of surgical correction of vertical orbital dystopia according to the degree of the dystopia is resonably safe, rewarding and worthwhile to the patients.
Congenital Abnormalities ; Dermoid Cyst ; Dysostoses ; Epilepsy ; Female ; Follow-Up Studies ; Humans ; Inlays ; Male ; Orbit* ; Pathology ; Reward ; Transplants ; Zygoma

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea.
Child, Preschool ; Dental Caries/*genetics ; Dysostoses/*genetics ; Exocrine Pancreatic Insufficiency/*genetics ; Female ; Humans ; *Mutation ; Neutropenia/*genetics ; Pedigree ; Syndrome

PURPOSE: Cleidocranial dysostosis is a rare hereditary disorder affecting bones that develop by intramembranous formation. The typical features include excessive growth of transverse diameter of the skull, hypoplastic clavicles, low height and characteristic facial features. METHODS: A 28-year-old female patient visited by frontal area depression. The diagnosis was performed by computed tomographic study and radiographic imaging. The patient had widely opened anterior fontanelle, partial fused metopic suture, multiple wormian bone and supernumenary impacted teeth. Under the coronal incision, we exposed depressed frontal area and corrected with Medpor block carving. RESULTS: Postoperatively frontoparietal skull was aestheticlly improved and satisfied the patient. CONCLUSION: Authors report a case of cleiodocranial dysostosis who underwent correction of abnormal skull shape by Medpor(R) insertion.
Adult ; Clavicle ; Cleidocranial Dysplasia ; Cranial Fontanelles ; Depression ; Dysostoses ; Female ; Frontal Bone ; Humans ; Polyethylenes ; Skull ; Sutures ; Tooth, Impacted

Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia. It is sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia punctata. It is associated with vitamin K deficiency during pregnancy. We describe here a baby with Binder syndrome who was born from mother with cholelithiasis during pregnancy.
Cholelithiasis ; Chondrodysplasia Punctata ; Dysostoses ; Finger Phalanges ; Humans ; Infant ; Maxilla ; Maxillofacial Abnormalities ; Mothers ; Nose ; Pregnancy ; Toes ; Vitamin K ; Vitamin K Deficiency