Orofacial characteristics in a child with Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6-year-old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.

BACKGROUND: Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but delayed diagnosis. CASE PRESENTATION: The patient was born to non-consanguineous, healthy parents of Chinese origin. She presented facial anomalies, micrognathia and skull malformations at birth, and was found hearing impairment, congenital heart disease and developmental delay during her first year of life. Her first visit to our center was at 1 year of age due to cardiovascular repair surgery for patent ductus arteriosus (PDA) and ventricular septal defect (VSD). Skull X-ray showed wormian bones. She returned at 7 years old after she developed progressive skeletal anomalies with fractures. She presented with multiple wormian bones, acro-osteolysis, severe osteoporosis, bowed fibulae and a renal cyst. Positive genetic test of a de novo heterozygous frameshift mutation in exon 34 of NOTCH2 (c.6426dupT) supported the clinical diagnosis of HCS. CONCLUSION: This is the second reported HCS case caused by the mutation c.6426dupT in NOTCH2, but presenting much earlier and severer clinical expression. Physicians should be aware of variable phenotypes so that early diagnosis and management may be achieved.

Artrodesis total de muñeca en paciente con síndrome de Hajdu Cheney: reporte de caso / Total wrist arthrodesis in a patient with Hajdu-Cheney syndrome: a case report

El síndrome de Hajdu-Cheney, es una patología infrecuente caracterizada por alteraciones esqueléticas que se manifiestan con acro-osteolisis y osteoporosis generalizada. Su frecuencia es extremadamente rara y existen escasos reportes en la literatura a nivel mundial. Se presenta un caso de un paciente con colapso avanzado del carpo producto de una no unión de escafoides no tratada. Se describen características clínicas y radiográficas del paciente y la resolución del caso con artrodesis total de muñeca.

Hajdu-Cheney syndrome is an uncommon skeletal disorder characterized by acroosteolysis and generalized osteoporosis. It is an extremely rare condition and few reports have been published in worldwide literature. We present a case of a patient with advanced carpal collapse product of a scaphoid non-union with Hajdu-Cheney syndrome. We describe clinical and radiographic characteristics and resolution of the case with total wrist arthrodesis.

Hajdu-Cheney syndrome: a case report with review of literature.

Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome.

Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report.

We describe a case of Hajdu-Cheney syndrome affecting the scaphotrapeziotrapezoid joint presently being treated non-operatively. This syndrome poses the problem of non-union when surgical intervention is required.

[Hadju-Cheney syndrome: kidney disturbs in a case report]. / Síndrome de Hadju-Cheney: alterações renais em um relato de caso.

Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.

Síndrome de Hadju-Cheney: alterações renais em um relato de caso / Hadju-Cheney syndrome: kidney disturbs in a case report

A síndrome de Hadju-Cheney é uma doença genética caracterizada por dismorfismos craniofaciais e alterações ósseas responsáveis pelo fenótipo da doença. As alterações renais, como cistos renais corticais, refluxo vesico - ureteral e falência renal, são raramente relatadas, mas são incluídas como apresentações menos comuns. O diagnóstico genético ainda não está disponível e a patogênese é relacionada a mutações no gene NOTCH. Os autores relatam um caso de um homem de 26 anos; porém, com características fenotípicas de um paciente pediátrico. Ele se apresentou com síndrome nefrótica, hipertensão arterial, cistos renais corticais e insuficiência renal aguda requerendo hemodiálise. A biopsia renal evidenciou glomeruloesclerose focal e segmentar e o tratamento para esse paciente foi de suporte com terapia hemodialítica. O diagnóstico da síndrome de Hadju-Cheney foi dado durante investigação do quadro renal.

Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.

Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis. Although there are more than 60 reports published to date, proper treatment and subsequent outcome have been scarce. Herein, we report a progress of anti-resorptive therapy with zoledronic acid, in a woman with Hajdu-Cheney syndrome. Results suggest that anti-resorptive therapy may be important in delaying the progress of osteoporosis and preventing fractures, but not necessarily acro-osteolysis itself.

A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus.

OBJECTIVE: Hajdu-Cheney syndrome (HCS), first described in 1948 by Hajdu and independently in 1965 by Cheney, is an extremely rare disorder characterized by severe and excessive bone resorption leading to osteoporosis, with a wide range of other systemic complications from connective tissue and bone dysplasia. Currently there are approximately 50 distinct cases reported in the literature. There have been several reports associating polycystic kidneys with HCS and several other connective tissue disorders, suggesting a possibility of a hyperproliferative component to the syndrome. No articles exist in the current literature describing a case of HCS with concurrent carcinoma. Here, we present a case of a 54-year-old nonimmune compromised woman with multiple stigmata of HCS and recently diagnosed anal squamous cell carcinoma. METHOD: This is a case report of HCS and stage T3N0 squamous cell carcinoma of the anus. RESULTS: This is the first report of a patient with HCS with malignancy. CONCLUSIONS: We present a patient with HCS who developed anal squamous cell carcinoma. The mechanism of HCS, which is still unknown, may either make patients more susceptible to carcinoma or may just be a reflection of the normal incidence of anal squamous cell carcinoma given attributable risk factors.

Hajdu-Cheney syndrome: report of a case.

Hajdu-Cheney syndrome is a rare disorder characterized by short stature, joint hypermobility, distinctive craniofacial and skull abnormalities, dental anomalies, and acroosteolysis of the distal phalanges. Cystic kidneys have been associated with some cases. We report a case of a 12-year-old girl with renal failure who underwent bilateral nephrectomies. Histopathological examination revealed polycystic kidneys with numerous nodules located throughout the kidney composed of basaloid epithelial cells.

Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome (MIM 102500) is a rare skeletal dysplasia marked by severe generalized osteoporosis and focal bone loss (acro-osteolysis). Osteoporosis treatment outcome has been reported only once previously. Reported herein is the biochemical and densitometric response to integrated anti-remodeling and anabolic therapy in a woman with Hajdu-Cheney syndrome. Results suggest dissociation of bone formation from bone resorption resulting in dramatic increases in bone mineral density without clinical evidence of activated osteoporosis.

Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental interest.

Hajdu-Cheney syndrome (acro-osteolysis) is a rare disorder of bone metabolism characterized by progressive lytic lesions in a number of bones. Constant features of this condition include an osteoporotic skeleton, acro-osteolysis, and a shortened lower third of face. The purpose of this report was to focus on the craniofacial and oral manifestations of the disorder in a 9-year-old boy.