Pregledni rad
https://doi.org/10.26800/LV-146-supl1-27
Dysmorphia and developmental anomalies in the inborn errors of metabolism
Sanda Huljev Frković
orcid.org/0000-0003-1513-2965
Sažetak
Dysmorphology is a part of genetics that studies the deviation from normal morphology in a population using dysmorphic features in the diagnostic workup and delineation of syndromic disorders. Dysmorphic features of the face and congenital anomalies of other organs can be recognized at birth or later in life. Although considering dysmorphia in a patient, we usually do not first think of inherited metabolic diseases, identification of specific phenotypic features can be an important diagnostic clue for many inherited metabolic diseases, especially when they are associated with other symptoms, including neurological problems, skeletal abnormalities, liver
disease, developmental delay, cardiomyopathy, or ocular abnormalities. Knowledge about the physical deviations in inherited metabolic diseases and the examples presented in the text are important because they bridge traditional divisions and connect dysmorphology and metabolis.
Ključne riječi
DYSMORPHIA, INBORN METABOLISM ERRORS, CONGENITAL ABNORMALITIES, GENETICS
Hrčak ID:
315854
URI
Datum izdavanja:
11.4.2024.
Posjeta: 62 *