2016
DOI: 10.1038/eye.2016.161
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Ophthalmologic manifestations of Hallermann–Streiff–Francois syndrome: report of four cases

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Cited by 8 publications
(6 citation statements)
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“…Given that HSS is a rare human malformation for which the molecular/genetic basis of disease have not been determined, 14 HSS is still diagnosed based on the clinical features. Previously reported patients with HSS were all infants, 5 , 6 children, 2 , 7 , 8 , 9 or at the oldest, young adolescents. 10 , 11 Thus, the current patient with HSS, first diagnosed in the seventh decade of life, is unique in the literature.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Given that HSS is a rare human malformation for which the molecular/genetic basis of disease have not been determined, 14 HSS is still diagnosed based on the clinical features. Previously reported patients with HSS were all infants, 5 , 6 children, 2 , 7 , 8 , 9 or at the oldest, young adolescents. 10 , 11 Thus, the current patient with HSS, first diagnosed in the seventh decade of life, is unique in the literature.…”
Section: Discussionmentioning
confidence: 99%
“… 3 , 4 Most patients with HSS were recognized as having a congenital anomaly as a newborn or early in life because of the characteristic facial appearance, severe visual disturbance, and/or upper airway obstruction. 2 , 5 , 6 , 7 , 8 , 9 , 10 , 11 We report a case of HSS that was first recognized when the patient was in her seventh decade of life.…”
Section: Introductionmentioning
confidence: 99%
“…In particular general anesthesia with laryngoscopy and endotracheal intubation may be complicated by the upper airway obstruction (David et al, ). Patients with HSS can be predisposed to recurrent respiratory infections, obstructive sleep apnea and respiratory insufficiency (David et al, ; Friede, Lopata, Fisher, & Rosenthal, ; Parikh & Gupta, ; Pasyanthi, Mendonca, Sachdeva, & Kekunnaya, ; Robinow, ). Respiratory distress, especially during the postoperative period, also seems to be common (Cho et al, ).…”
Section: Clinical Features Of Hallermann–streiff Syndromementioning
confidence: 99%
“…Systemic disorders most commonly associated with congenital cataracts are congenital heart disease and nervous system disease. Other congenital cataract associated syndromes, such as Hallermann‐Streiff‐Francois syndrome (Pasyanthi et al, ), Wolfram syndrome (Morikawa et al, ), congenital cataract facial dysmorphism neuropathy syndrome (Masters et al, ), Nance‐Horan syndrome (NHS) (Tian et al, ), and Lowe syndrome (Gao et al, ) have also been reported. Ocular manifestations can result from inherited metabolic disorders (Rajappa et al, ), including galactosemia (Lee et al, ), Wilson disease, hypocalcemia, hypo/hyperglycemia, and Lowe syndrome.…”
Section: Prevalence and Epidemiological Characteristics Of Congenitalmentioning
confidence: 99%