Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth deficiency that persist throughout life. This disorder is caused by various mechanisms such as chromosomal abnormalities, molecular changes and mutation of genes that result in developmental defects, facial dysmorphism and skeletal abnormalities in fetus. Primordial dwarfism includes ۵ specific subtypes that their descriptions vary from one type to another. This study aimed to report ۷ cases of primordial dwarfism as the first case series study and literature review of this disorder in Iran.  Case Presentations: This study presented primordial dwarfism patients and summarized clinical findings of ۷ cases who referred to Pediatric endocrine wards in Imam Reza Hospital, from June ۲۰۱۶ to September ۲۰۱۷. The cases suffered from severe growth retardation and clinical features of this disorder that were not explained by other disorders. We also conducted a literature review about primordial dwarfism on Google Scholar, Medline, and PubMed to compare our results with other reports. Seven patients (۵ females and ۲ males) aged between ۱۸ months and ۱۲ years were identified, during the study. The most prevalent referring symptoms were growth retardation, presenting in all cases. Other clinical signs and symptoms included intrauterine growth retardation, low birth weight, specific clinical features such as microcephaly, narrow face, high pitch voice, prominent nose, etc. Biochemical and imaging studies were performed to rule out other diseases that can cause growth retardation. The diagnosis of primordial dwarfism was made based o clinical presentation. Conclusions: This review will provide an overview of the clinical aspects and different subtypes of primordial dwarfism disorder and draw the attention of clinicians for diagnose and further evaluations of this disorder.