Albright hereditary osteodystrophy: A rare case report

Abstract

Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism). It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

“…Two studies (Jackson and Whyte, 1967; Kinirons and Glasgow, 1985) were not included in the tables, as they only reported on dentinal changes seen in light microscope. Table 4 illustrates study characteristics for all PHP studies (Croft et al, 1965; Ritchie, 1965; Okano et al, 1969; Glynne et al, 1972; Witkop, 1976; Myllärniemi and Perheentupa, 1978; Illum et al, 1980; Jensen et al, 1981; Nikiforuk and Fraser, 1981; Storm et al, 1985; Lagarde et al, 1989; Brown and Aaron, 1991; Cohen, 1991; Gomes et al, 2002; Goswami et al, 2009; Velez et al, 2009; Sengupta et al, 2012; Hugar et al, 2014; Reis et al, 2016; Delantoni et al, 2017; Gallacher et al, 2017) as a combined group, and Table 5 illustrates the oro-dental findings in PHP studies. The studies included were published between 1939 and 2017 (Humphreys, 1939; Lewyllie et al, 2017).…”

“…Enamel anomalies described as white stainings (Goswami et al, 2009), chalky white areas (Lagarde et al, 1989), or dull white in color (Ritchie, 1965) are not the characteristics of opacities only. Dental fluorosis and caries can also cause white spot lesions, which were not discussed in the publications (Ritchie, 1965; Lagarde et al, 1989; Goswami et al, 2009). In addition, negative findings were not stated in a number of studies.…”

“…Hypocalcemia is hypothesized as one of the potential causes of disturbances of the tooth development, e.g., enamel opacities and enamel hypoplasia (Garfunkel et al, 1979; Gao et al, 2015). Studies on dental manifestations of the various types of Ns-HypoPT and PHP, e.g., enamel hypoplasia, enamel opacities, hypodontia, root deviations, and eruption disturbances are, however, often mentioned with only few references (Goswami et al, 2009; Velez et al, 2009; Kamarthi et al, 2013). Furthermore, dental findings are often reported as general characteristics of patients with Ns-HypoPT and PHP (Kamarthi et al, 2013).…”

Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism

“…[3] Bilateral involvement of 4 th and 5 th metacarpals is the most usual form of disorder and these results from premature epiphyseal plates fusion of ring and little finger metacarpals. [1] In our patient with hypocalcaemia, hyperphosphatemia and low serum PTH levels, the diagnosis of idiopathic primary hypoparathyroidism was considered. We found short 4 th and 5 th metacarpals in this case.…”

“…[12] AHO patients have other diagnostic clinical signs including short stature, obesity, round face and mental retardation. [3] IPH patients have similar biochemical findings as those PHP patients including hypocalcaemia and hyperphosphatemia, but they have PTH deficiency which is helpful in the making of definite diagnosis.…”