A Rare Association: Recurrent Hypernatremia, Cleft Lip/palate, and Holoprosencephaly
نویسندگان
چکیده
We report a female infant with facial dysmorphism, ectrodactyly, holoprosencephaly, and associated hypernatremia. A 7-month-old female infant with cleft lip and palate, and ectrodactyly was admitted to our hospital with recurrent hypernatremic dehydration. Magnetic resonance imaging revealed holoprosencephaly. Plasma osmolality was increased whereas urinary osmolality was decreased. Serum ADH level was low. A water deprivation test revealed diabetes insipidus. By presenting this case,we would like to point out that midline facial defects may be associated with cerebral malformations and diabetes insipidus must always be kept in mind as a co-presenting condition.
منابع مشابه
Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report
INTRODUCTION Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal ...
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holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptu...
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We report a case of lip repair surgery performed for bilateral cleft lip and palate in a patient diagnosed with trisomy 13 and holoprosencephaly. At the age of 2 years and 7 months, the surgery was performed using a modified De Hann design under general anesthesia. The operation was completed in 1 h and 21 min without large fluctuations in the child's general condition. The precise measurement ...
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