Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37(+1) weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of beta-D-hexosaminidase and alpha-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.
Acetylglucosaminidase ; Aged ; Alkaline Phosphatase ; Asphyxia ; Biopsy ; Birth Weight ; Dysostoses ; Enzyme Assays ; Female ; Fetal Growth Retardation ; Genetic Testing ; Humans ; Hyperparathyroidism ; Hyperparathyroidism, Secondary ; Infant ; Infant, Newborn ; Leukocytes ; Mucolipidoses ; Mucopolysaccharidosis I ; Parathyroid Hormone ; Parturition ; Phenotype ; Plasma ; Pregnancy ; Rickets ; Trophoblasts ; Vitamin D

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.
Acro-Osteolysis ; Adolescent ; Animals ; Beak ; Craniofacial Abnormalities ; Dysostoses ; Extremities ; Fingers ; Frontal Sinus ; Humans ; Hyperostosis ; Nails, Malformed ; Nose ; Paranasal Sinuses ; Physical Examination ; Prognathism ; Pycnodysostosis ; Retention (Psychology) ; Sclerosis ; Skin ; Sutures ; Tooth, Deciduous ; Tooth, Supernumerary

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.
Adolescent ; Arm ; Congenital Abnormalities ; Constriction, Pathologic ; Diagnosis, Differential ; Displacement (Psychology) ; Dysostoses ; Ear ; Epiphyses ; Fingers ; Growth Disorders ; Hearing Loss, Sensorineural ; Humans ; Hypertelorism ; Intellectual Disability ; Korea ; Magnetic Resonance Imaging ; Metacarpal Bones ; Metatarsal Bones ; Neurologic Manifestations ; Nose ; Osteochondrodysplasias ; Palatine Tonsil ; Platybasia ; Skull ; Spinal Canal ; Spinal Stenosis ; Spine ; Toes ; Upper Extremity

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

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

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

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.
Brachydactyly ; Child ; Dysostoses* ; Eye Movements ; Facial Bones ; Female ; Follow-Up Studies* ; Foot ; Hand ; Head ; Humans ; Magnetic Resonance Imaging ; Muscle Hypotonia ; Reference Values ; Skull ; Ventilation

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and alpha-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized:early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only beta-galactosidase deficiency in the lymphocytes and was diagnosed as GM1-gangliosidosis type 1. However, further studies revealed the possible defect of alpha-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking GM1-gangliosidosis type 1.
beta-Galactosidase ; Cathepsin A ; Cerebellar Ataxia ; Congenital Abnormalities ; Dysostoses ; Facies ; Gangliosidosis, GM1 ; Hearing Loss ; Humans ; Infant ; Lymphocytes ; Lysosomal Storage Diseases ; Male ; Mucolipidoses ; Neurodegenerative Diseases ; Prunus

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