2020
DOI: 10.1016/j.jped.2018.07.005
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Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome

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Cited by 5 publications
(3 citation statements)
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“…Second, the diagnosis of SSS is supported by the clinical differential signs summarized by Naguib et al (2009) (Table S2). Third, our patient has microcephaly and ID, which are present in all SSS patients (Aminzadeh, Galehdari, Shariati, Malekpour, & Ghandil, 2020; Elhassanien & Alghaiaty, 2013), but not in KCS1 and KCS2. Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS.…”
Section: Discussionmentioning
confidence: 64%
“…Second, the diagnosis of SSS is supported by the clinical differential signs summarized by Naguib et al (2009) (Table S2). Third, our patient has microcephaly and ID, which are present in all SSS patients (Aminzadeh, Galehdari, Shariati, Malekpour, & Ghandil, 2020; Elhassanien & Alghaiaty, 2013), but not in KCS1 and KCS2. Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS.…”
Section: Discussionmentioning
confidence: 64%
“…All of these features result from significant prenatal and postnatal growth retardation. 4 8 The disorder is characterized by congenital hypoparathyroidism leading to early onset hypocalcemic seizures. In addition, ocular anomalies, such as nanophthalmos, retinal vascular tortuosity, and corneal opacification, were documented in literature.…”
Section: Clinical Manifestationmentioning
confidence: 99%
“…9 10 Laboratory finding in SSS in all patients showed low levels of calcium in the setting of low parathyroid hormone (PTH) levels as well as high phosphorus level, low levels of magnesium, and high alkaline phosphatase (ALP) with low vitamin D level. Aminzadeh et al 8 described that the major biochemical levels are serum calcium ranged from 5 to 7 mg/dL (reference range: 8.5–11 mg/dL), phosphorus ranged from 6.4 to 13 mg/dL (reference range: 4–6.5 mg/dL), and high ALP (1350 U/L). Furthermore, low vitamin D 4.2 ng/mL (reference range: 30–50 ng/mL) and PTH values < 0.4 to 7.5 (reference range: 15–65 pg/mL) have also been seen in previous cases.…”
Section: Clinical Manifestationmentioning
confidence: 99%