Endocrinological and phenotype evaluation in a patient with acrodysostosis

Ueyama, Kaoru; Namba, Noriyuki; Kitaoka, Taichi; Yamamoto, Keiko; Fujiwara, M.; Ohata, Yasuhisa; Kubota, Takuo; Ozono, Keiichi

doi:10.1297/cpe.26.177

Cited by 6 publications

(5 citation statements)

References 12 publications

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“…The newborn infants in seven of the eight cases in groups A and B were SGA infants, a finding that was also reported previously ( 1 , 2 , 4 , 5 , 8 , 19 ). On the other hand, all newborn infants in group C were adequate for gestational age infants.…”

Section: Discussionsupporting

confidence: 89%

“…Here, we present the PRKAR1A and PDE4D gene defects and phenotypes identified in ACRO syndromes and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway ( 1 , 2 , 3 , 4 , 5 ). Large numbers of cases with PHP have been reported ( 6 ); however, only a small number of cases with PRKAR1A ( 7 , 8 ) and PDE4D ( 9 , 10 ) in our country have been reported.…”

Section: Introductionmentioning

confidence: 79%

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Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Matsuura

Kaname

Niikawa

et al. 2022

Endocrine Connections

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Objective: To report on 15 Japanese patients with acrodysostosis and PHP and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is suitable for Japanese patients. Design: We divided them into three groups based on hormone resistance, the number of fingers with short metacarpals, the existence of cone-shaped epiphyses and gene defects. Methods: We carried out clinical, radiological and genetic evaluations of two patients in Group A (iPPSD5), 6 patients in Group B (iPPDS4) and 7 patients in Group C (iPPSD2). Results: Group A consisted of two siblings without hormone resistance who had the most severe bone and physical developmental delays. PDE4D gene defects were detected in both cases. Group B consisted of 6 patients who showed hormone resistance without hypocalcemia. Short metacarpal bones with corn-shaped epiphyses were observed in all patients. In two cases PRKAR1A gene defects were detected; however, their clinical and radiological features were not identical. The facial dysmorphism was less severe and PRKAR1A gene defects were detected in case B-3. Severe facial dysmorphism and deformity of metacarpal bones were observed but no gene defect was detected in case B-1. Group C consisted of 7 patients with PHP1a, 4 of whom had maternally inherited heterozygous inactivating mutations in one of the GNAS genes. The clinical and radiological features of the patients in Group C were not identical either. Conclusions: The newly proposed classification is suitable for Japanese patients, however; heterogeneities still existed within Groups B and C.

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Section: Discussionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 79%

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Matsuura

Kaname

Niikawa

et al. 2022

Endocrine Connections

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“…Acrodysostosis is another rare genetic disorder which is associated with PTH resistance [12]. However absence of characteristic phenotypic features (underdeveloped facial bones, abnormally small hands and feet) in this patient makes it highly unlikely.…”

Section: Discussionmentioning

confidence: 99%

A patient with extensive cerebral calcification due to pseudohypoparathyroidism: a case report

Silva

2019

BMC Endocr Disord

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BackgroundPseudohypoparathyroidism(PHP) is a heterogeneous group of disorders due to impaired activation of c AMP dependant pathways following binding of parathyroid hormone (PTH) to its receptor. In PHP end organ resistance to PTH results in hypocalcaemia, hyperphosphataemia and high PTH levels.Case presentationA 59 year old male presented with a history of progressive impairment of speech and unsteadiness of gait for 1 week and acute onset altered behavior for 1 day and one episode of generalized seizure. His muscle power was grade four according to MRC (medical research council) scale in all limbs and Chovstek’s and Trousseau’s signs were positive. Urgent non contrast computed tomography scan of the brain revealed extensive bilateral cerebral and cerebellar calcifications. A markedly low ionized calcium level of 0.5 mmol/l, an elevated phosphate level of 9.5 mg/dl (reference range: 2.7–4.5 mg/dl) and an elevated intact PTH of 76.3 pg/l were noted. His renal functions were normal. His hypocalcemia was accentuated by the presence of hypomagnesaemia. His 25 hydroxy vitamin D level was only marginally low which could not account for severe hypocalcaemia. A diagnosis of pseudohypoparathyroidism without phenotypic defects, was made due to hypocalcaemia and increased parathyroid hormone levels with cerebral calcifications. The patient was treated initially with parenteral calcium which was later converted to oral calcium supplements. His coexisting Vitamin D deficiency was corrected with 1αcholecalciferol escalating doses. His hypomagnesaemia was corrected with magnesium sulphate parenteral infusions initially and later with oral preparations. With treatment there was a significant clinical and biochemical response.ConclusionPseudohypoparathyroidism can present for the first time in elderly resulting in extensive cerebral calcifications. Identification and early correction of the deficit will result in both symptomatic and biochemical response.

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“…10 Also an upturned nose and V-shaped epiphysis of phalanges have been reported as the predominant feature of acrodysostosis which may help to differentiate it from PHP1a and PHPP. 3 Subcutaneous ossification is not reported in acrodysostosis which is a well-recognized feature of PPHP. 5,10 Absence of GNAS mutation favours the diagnosis of acrodysostosis, which is present in PHP1a.…”

Section: Discussionmentioning

confidence: 99%

“…Typical radiographic features of this disorder includes severe shortening of metacarpals, phalanges and metatarsals, hypoplastic nasal bones, cone shaped epiphysis of phalanges. 3 Relative sparing or hyperplasia of 1st toe have been reported in some of the cases. 4,5 Additional radiographic features include lack of normal caudal widening of lumbar interpedicular distance.…”

Section: Introductionmentioning

confidence: 99%

A case of acrodysostosis: a rare primary bone dysplasia

2018

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Acrodysostosis is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis and nasal hypoplasia. Diagnostic approach to this disorder is based on clinical, radiological and hormonal assays. We present a case of 11-year-old female child who presented with the complaint of short stubby hands and feet since birth and facial dysmorphism. Her skeletal survey revealed typical radiographic features of acrodysostosis. Hormonal assays did not reveal any significant abnormality. In this case report, we would like to highlight the clinical and radiological features of this disorder which could be helpful in diagnosis of this rare disease.

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Endocrinological and phenotype evaluation in a patient with acrodysostosis

Cited by 6 publications

References 12 publications

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

A patient with extensive cerebral calcification due to pseudohypoparathyroidism: a case report

A case of acrodysostosis: a rare primary bone dysplasia

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