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18 Short case report Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability a b c Gunes Sager , Ayberk Türkyilmaz , Yasemin Dilek Hanedar , d e Hediye Pınar Günbey and Yasemin Akın Clinical Dysmorphology 2023, 32:18–20 Correspondence to Gunes Sager, MD, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Semsi Denizer Avenue, Cevizli, 34890, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Kartal, Istanbul, Turkey Department of Medical Genetics, Karadeniz Technical University Faculty of Tel: +905055983104; e-mail: sgunessenturk@gmail.com c d Medicine, Trabzon and Departments of Pediatric Gastroenetrology, Radiology and Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey Received 10 April 2022 Accepted 3 August 2022 List of key features was hypotonic in the neonatal period. However, muscle GMPPA strength improved over time. The patient achieved head Alacrima control at 4 months and independent sitting at 11 months. Achalasia The patient had no lacrimation since neonatal period, and Mental retardation salivary secretion and sweating were reported to be low. In the neurological examination, cranial nerve showed Background normal gag reflex, but difficulty in swallowing solid foods Alacrima, achalasia, and mental retardation syndrome and liquids was observed. It was
Clinical Dysmorphology – Wolters Kluwer Health
Published: Jan 3, 2023
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