One-year-old male Persian cat presented with multiple fractures and no known traumatic history. Marked decrease of bone radiopacity and thin cortices of all long bones were identified on radiography. Tentative diagnosis was osteogenesis imperfecta, a congenital disorder characterized by fragile bone. To determine bone mineral density (BMD), quantitative computed tomography (QCT) was performed. The QCT results revealed a mean trabecular BMD of vertebral bodies of 149.9 ± 86.5 mg/cm³. After bisphosphonate therapy, BMD of the same site increased significantly (218.5 ± 117.1 mg/cm³, p < 0.05). QCT was a useful diagnostic tool to diagnose osteopenia and quantify response to medical treatment.
Animals ; Bone Density ; Bone Diseases, Metabolic ; Cats* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diagnosis ; Fractures, Multiple ; Humans ; Male ; Osteogenesis Imperfecta ; Osteogenesis* ; Radiography

Levocardia (left-sided cardiac apex) with abdominal situs inversus is extremely rare. This is also known as isolated levocardia and is almost always associated with severe forms of congenital heart defects with poor prognosis. We report isolated levocardia in a 13-year-old symptomatic male patient. The purpose of this paper is to outline the imaging features of isolated levocardia and to highlight the role of cardiovascular magnetic resonance imaging (CMR) in the diagnosis and management of such cases. Other forms of cardiac malposition, including dextrocardia, mesocardia and criss-cross heart, with chest radiograph and CMR correlation, are also discussed.
Abnormalities, Multiple ; diagnosis ; Adolescent ; Diagnostic Imaging ; Humans ; Levocardia ; diagnosis ; Magnetic Resonance Imaging, Cine ; Male ; Radiography, Thoracic ; Situs Inversus ; diagnosis ; Tomography, X-Ray Computed

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Child ; Chromosome Deletion ; Chromosome Disorders/diagnosis/*genetics/radiography ; Chromosome Mapping ; Chromosomes, Human, Pair 11/genetics/radiography ; Craniofacial Abnormalities/genetics ; Developmental Disabilities/genetics ; Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography ; Humans ; Male ; Muscle Hypotonia/genetics ; Oligonucleotide Array Sequence Analysis ; Rare Diseases/*genetics ; Republic of Korea

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Child ; Chromosome Deletion ; Chromosome Disorders/diagnosis/*genetics/radiography ; Chromosome Mapping ; Chromosomes, Human, Pair 11/genetics/radiography ; Craniofacial Abnormalities/genetics ; Developmental Disabilities/genetics ; Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography ; Humans ; Male ; Muscle Hypotonia/genetics ; Oligonucleotide Array Sequence Analysis ; Rare Diseases/*genetics ; Republic of Korea

Abnormalities, Multiple ; diagnosis ; genetics ; pathology ; Brain ; diagnostic imaging ; pathology ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Optic Atrophies, Hereditary ; diagnostic imaging ; pathology ; Radiography ; Septo-Optic Dysplasia ; diagnosis ; genetics ; pathology ; Septum Pellucidum ; diagnostic imaging ; pathology

OBJECTIVETo investigate the clinical characteristics, diagnosis and therapy of Keutel syndrome, and thereby to minimize the misdiagnosis.

METHODData of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.

RESULTAn 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation. His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge. The nose was small and flat. A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum. The end phalanges of his fingers were thickened. Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis. Echocardiographic examination revealed the right pulmonary stenosis. With endoscopic surgery, antiobstructive and antibiotic therapy clinical symptoms were improved. Three weeks later he died of lung reinfection after he was discharged from our hospital. English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients, and the clinical symptoms were hearing loss (91%), persistent respiratory symptoms (68%), recurrent otitis media/sinusitis (67%), growth development delay (52%) in turn, and signs were brachytelephalangism (100%), low nasal bridge (95%), midfacial hypoplasia (93%), cardiac murmur (69%), and auxiliary examinations showed abnormal cartilage calcification (100%), pulmonary arterial stenosis (72%), tracheobronchial stenosis (50%).

CONCLUSIONThe diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism, abnormal cartilage calcification, peripheral pulmonary stenosis, and midfacial hypoplasia. Tracheal stenosis was main clinical manifestation in part of patients.

Abnormalities, Multiple ; diagnosis ; diagnostic imaging ; therapy ; Bone and Bones ; diagnostic imaging ; Calcinosis ; diagnosis ; diagnostic imaging ; therapy ; Cartilage ; diagnostic imaging ; Cartilage Diseases ; diagnosis ; diagnostic imaging ; therapy ; Diagnosis, Differential ; Hand Deformities, Congenital ; diagnosis ; diagnostic imaging ; therapy ; Humans ; Infant ; Male ; Pulmonary Valve Stenosis ; diagnosis ; diagnostic imaging ; therapy ; Radiography, Thoracic ; Retrospective Studies ; Tomography, X-Ray Computed ; Tracheal Stenosis ; diagnosis ; diagnostic imaging

The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
Abnormalities, Multiple/*diagnosis/genetics/radiography ; Aorta, Thoracic/radiography ; Aortic Valve/ultrasonography ; Chromosome Disorders/*diagnosis/genetics ; Chromosomes, Human, Pair 6/genetics ; Ductus Arteriosus, Patent/*diagnosis/genetics/radiography ; Humans ; Infant ; Karyotyping ; Male ; Ring Chromosomes ; Tomography, X-Ray Computed

Abnormalities, Multiple ; diagnostic imaging ; Adult ; Female ; Humans ; Kidney Calculi ; diagnostic imaging ; Radiography ; Ureter ; abnormalities ; diagnostic imaging

Abnormalities, Multiple ; diagnostic imaging ; Female ; Humans ; Infant ; Lumbar Vertebrae ; abnormalities ; Neural Tube Defects ; diagnostic imaging ; Radiography ; Sacrum ; abnormalities ; Scoliosis ; diagnostic imaging

Abnormalities, Multiple ; diagnosis ; diagnostic imaging ; Aorta, Thoracic ; abnormalities ; diagnostic imaging ; Aortic Aneurysm, Thoracic ; congenital ; diagnosis ; diagnostic imaging ; Aortic Diseases ; congenital ; diagnosis ; diagnostic imaging ; Child ; Diagnosis, Differential ; Humans ; Male ; Radiography ; Rare Diseases ; X-Rays