Searchable abstracts of presentations at key conferences on calcified tissues
Bone Abstracts (2013) 1 PP12 | DOI: 10.1530/boneabs.1.PP12

ECTS2013 Poster Presentations Clinical case posters (12 abstracts)

Severe osteoporosis associated with Hajdu–Cheney syndrome: follow-up after 2 years of teriparatide therapy

Georgina Terroso 1 , Miguel Bernardes 1 , Abelha Aleixo 1 , Romana Vieira 1, , Pedro Madureira 1 , Rita Fonseca 1 , Diana Goncalves 1 & Lucia Costa 1


1Centro Hospitalar Sao Joao, Porto, Portugal; 2Hospital do Funchal, Funchal, Portugal.


Objectives: To describe the response to treatment with teriparatide for osteoporosis associated with Hajdu–Cheney syndrome after a follow-up 2 years.

Material and methods: A 51-year-old woman presented in our outpatient clinic with pseudo-clubbing of some fingers and toes. She was short (139 cm) and thin (34 kg). She also had some facial and cranial abnormalities: thin lips, long philtrum, full cheeks, micrognathia, short neck, bushy eyebrows and coarse hair. Upon palpation, open skull sutures were noted.

Results: Radiographs showed acro-osteolysis of some distal phalanges in fingers and toes, persistence of skull sutures and enlargement of the sella turcica.

Blood and urinary test s revealed high β-crosslaps and low vitamin D levels, without further abnormalities. Bone densitometry with dual-energy X-ray absortiometry (Lunar Expert) showed a T-score of −4 in lumbar spine (L1–L4) and a T-score of −2 in total hip and femoral neck. Hajdu–Cheney syndrome was diagnosed. Vitamin D insufficiency was corrected and therapy with teriparatide (20 μg daily) was started. After 2 years of daily s.c. administration of teriparatide, bone densitometry with dual-energy X-ray absortiometry (Lunar Expert) showed an increase in T-score to −3 in lumbar spine (L1–L4) and in total hip and femoral neck to −1.6.

Conclusions: Hajdu–Cheney syndrome is a rare skeletal dysplasia marked by severe generalized osteoporosis and acro-osteolysis. Osteoporosis treatment outcome has been reported infrequently. The aim of this repor t is to remind the severity of osteoporosis in this syndrome and report the clear increase in BMD after 2 years of teriparatide therapy.

Volume 1

European Calcified Tissue Society Congress 2013

Lisbon, Portugal
18 May 2013 - 22 May 2013

European Calcified Tissue Society 

Browse other volumes

Article tools

My recent searches

No recent searches.