No abstract available.
Ellis-Van Creveld Syndrome*

A 24 year-old female presented for a (99m)Tc-methylene diphosphonatae (MDP) whole body bone scan due to chronic pain in the bilateral lower extremities that has aggravated since 2002. She was diagnosed with Camurati-Engelmann disease (CED) based on the clinical and radiological findings in 2002, and she re-visited our institute to evaluate disease status at this time. CED is a rare autosomal dominant type of bone dysplasia characterized by progressive cortical thickening of long bones, and narrowing of medullary cavity, and thus presents with typical clinical symptoms and signs such as chronic pain in the extremities, muscle weakness, and waddling gait. On the (99m)Tc-MDP bone scan performed to evaluate disease status, intense increased uptake was seen in the skull, facial bones, bilateral scapulae, bilateral long bones, and bilateral pelvic bones, which clearly demonstrated the extent of CED involvement.
Bone Diseases, Developmental ; Camurati-Engelmann Syndrome ; Chronic Pain ; Extremities ; Facial Bones ; Female ; Gait ; Humans ; Lower Extremity ; Muscle Weakness ; Pelvic Bones ; Scapula ; Skull

Craniofacial dysostoses(Crouzon's disease) are characterized by cranial and facial deformities but the relationship between the craniosynostosis and facial deformities has not been clearly established. However, we believe that certain facial hypoplasias are comparable in nature with craniostenosis. Our objective in treatment of the Crouzon's disease is to achieve a postero-anterior movement of the whole facial mass, with the double aim of establishing normal dental occlusion and of increasing orbital capacity. The method we describe uses Tessier's basic procedures for surgical correction of the Crouzon's diseases patient who was 16 year-old boy. It would appear that the best treatment of these requires a radical and total osteostomy of the middle third of the face, to permit complete repositioning of the involved segment. These total osteotomies frequently include the creation of a line of separation between the anterior cranial base above and the facial bone below and also between the pterygoid processes behind and the maxilla anteriorly. Thus one is detaching the face from the cranial base. The authors described the surgical management of the Crouzon's disease and discussed the warning points of intraoperative technique in correction of the craniofacial dysostosis.
Adolescent ; Congenital Abnormalities ; Craniofacial Dysostosis ; Craniosynostoses ; Dental Occlusion ; Dysostoses ; Facial Bones ; Humans ; Male ; Maxilla ; Orbit ; Osteotomy ; Skull Base

In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.
Adult ; Agammaglobulinemia* ; Dwarfism, Pituitary ; Growth Hormone ; Humans

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

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

Hypochondroplasia is a form of short
Achondroplasia ; Christianity ; Dwarfism ; Extremities ; Hand

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia characterized by craniofacial hyperostosis anddiaphyseal dysplatic changes. We reviewed the clinical, radiologic and laboratory features of one such case.
Bone Diseases, Developmental ; Hyperostosis

Delayed presentation of Developmental Dysplasia of Hip (DDH) comes with challenges in treatment as well as high surgical cost. Therefore the objective of this study is to quantify the economic impact of management of late presentation of DDH during a last 3-year period. We conducted a retrospective study with analysis of DDH cases managed between years 2012 to 2014. Early and late presentations of DDH were identified and cost management for both was estimated. Out of twenty-four DDH cases, thirteen cases fulfilled the inclusion criteria. All were female with majority of them presenting with unilateral DDH predominantly of the left hip. Most patients presented after age of six months and the principal complaint was abnormal or limping gait. The grand total cost for managing DDH during the three years period was USD 12,385.51, with 86% of the amount having been used to manage late presentation of DDH that was mostly contributed by the cost of surgery. We concluded that delayed presentation of DDH contributes heavily to high national expenditure. Early detection of DDH cases with systematic neonatal screening may help to minimize the incidence of the late presenting DDH and subsequently reduce the economic burden to the government.
Bone Diseases, Developmental

Growth hormone deficiency (GHD) is a common cause of dwarfism. Most GHD patients are sporadic, whilst 5%-30% are of familial type. X-linked GHD patients are relatively rare. We hereby provide a literature review and report on our latest findings of the disease.
Dwarfism, Pituitary ; diagnosis ; genetics ; Genetic Association Studies ; Humans