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Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.
Kamali F, Jamee M, Sayer JA, Sadeghi-Bojd S, Golchehre Z, Dehghanzad R, Keramatipour M, Mohkam M. Kamali F, et al. CEN Case Rep. 2023 Nov;12(4):413-418. doi: 10.1007/s13730-023-00785-8. Epub 2023 Mar 26. CEN Case Rep. 2023. PMID: 36967423 Free PMC article. Review.
She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, and pseudotumor cerebri following administration of nalidixic acid. ...
She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, an …
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Minale EMP, De Falco A, Agolini E, Novelli A, Russo R, Andolfo I, Iolascon A, Piscopo C. Minale EMP, et al. Genes (Basel). 2024 Jan 20;15(1):130. doi: 10.3390/genes15010130. Genes (Basel). 2024. PMID: 38275611 Free PMC article. Review.
The patient presents with short proportionate stature, low weight, and neurological impairment, including intellectual disability, global developmental delay, abnormal coordination, dystonia, and motor tics, along with dysmorphisms such as a wide anterior fontane …
The patient presents with short proportionate stature, low weight, and neurological impairment, including intellectual disability, global de …
Clinical, biochemical and radiological manifestations of severe vitamin d deficiency in adolescents versus children: response to therapy.
Soliman A, De Sanctis V, Adel A, El Awwa A, Bedair S. Soliman A, et al. Georgian Med News. 2012 Sep;(210):58-64. Georgian Med News. 2012. PMID: 23045422 English, Georgian.
RESULTS: at presentation, infants and young children (age 1.9 0.5 years) with severe VDD had enlarged wrist joints (42/45), cranial bossing (39/45), wide anterior fontanel (27/45), Harrison's sulcus (11/45) , chest rosaries (27/45), bow legs (29/45), delayed …
RESULTS: at presentation, infants and young children (age 1.9 0.5 years) with severe VDD had enlarged wrist joints (42/45), cranial bossing …
Clinical responses to a mega-dose of vitamin D3 in infants and toddlers with vitamin D deficiency rickets.
Soliman AT, El-Dabbagh M, Adel A, Al Ali M, Aziz Bedair EM, Elalaily RK. Soliman AT, et al. J Trop Pediatr. 2010 Feb;56(1):19-26. doi: 10.1093/tropej/fmp040. Epub 2009 Jun 8. J Trop Pediatr. 2010. PMID: 19506025 Clinical Trial.
RESULTS: At presentation, the most frequent manifestations were enlarged wrist joints, hypotonia, irritability, cranial bossing, wide anterior fontanel, bow legs, delayed teething and walking and Harrison's sulcus with chest rosaries. ...
RESULTS: At presentation, the most frequent manifestations were enlarged wrist joints, hypotonia, irritability, cranial bossing, wide …
Candida albicans meningitis in an infant with Noonan syndrome.
Ahmadi F, Ahmadi M, Yaghmaei B, Nejat F, Rezaei N, Mamishi S. Ahmadi F, et al. Braz J Infect Dis. 2009 Dec;13(6):452-3. doi: 10.1590/s1413-86702009000600012. Braz J Infect Dis. 2009. PMID: 20464338
We describe here a 1-month old girl, who was referred to our center with seizure and apnea. She had wide anterior fontanel, head circumference and sunset eye. Intaventricular hemorrhage by sonography and atrial septal defect and hypertrophy cardiomyopathy by …
We describe here a 1-month old girl, who was referred to our center with seizure and apnea. She had wide anterior fontanel …
The frequency of nutritional rickets among hospitalized infants and its relation to respiratory diseases.
Najada AS, Habashneh MS, Khader M. Najada AS, et al. J Trop Pediatr. 2004 Dec;50(6):364-8. doi: 10.1093/tropej/50.6.364. J Trop Pediatr. 2004. PMID: 15537725
Clinical signs of rickets were also recorded, including rosary beads, craniotabes, wide anterior fontanel, delayed dentition, widening of epiphysis, bowing of the legs, and double malulous. ...
Clinical signs of rickets were also recorded, including rosary beads, craniotabes, wide anterior fontanel, delayed dent …