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Primordial Dwarfism: a Case Series from North East of Iran and Literature Review

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Primordial Dwarfism: a Case Series from North East of Iran and Literature Review April 2019, Volume 7, Issue 2, Number 14 A Case Report and Literature Review: Primordial Dwarfism: A Case Series From North East of Iran and Literature Review Rahim Vakili1, 2 , Somayyeh Hashemian1* 1. Department of Pediatrics, Faculty of Medicine, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. 2. Medical Genetic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Use your device to scan and read the article online Citation: Vakili R, Hashemian S. Primordial Dwarfism: A Case Series From North East of Iran and Literature Review. Journal of Pediatrics Review. 2019; 7(2):113-120. http://dx.doi.org/10.32598/jpr.7.2.113 : http://dx.doi.org/10.32598/jpr.7.2.113 A B S T R A C T Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine See Page 119 Funding: 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 Article info: changes and mutation of genes that result in developmental defects, facial dysmorphism and Received: 15 February 2018 skeletal abnormalities in fetus. Primordial dwarfism includes 5 specific subtypes that their First Revision: 10 March 2018 descriptions vary from one type to another. This study aimed to report 7 cases of primordial Accepted: 30 May 2018 dwarfism as the first case series study and literature review of this disorder in Iran. Published: 01 April 2019 Case Presentations: This study presented primordial dwarfism patients and summarized clinical findings of 7 cases who referred to Pediatric endocrine wards in Imam Reza Hospital, from June 2016 to September 2017. 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 (5 females and 2 males) aged between 18 months and 12 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 Keywords: rule out other diseases that can cause growth retardation. The diagnosis of primordial dwarfism was made based o clinical presentation. Growth retardation, Microcephaly, Russell- Conclusions: This review will provide an overview of the clinical aspects and different subtypes Silver syndrome, Clinical of primordial dwarfism disorder and draw the attention of clinicians for diagnose and further findings evaluations of this disorder. * Corresponding Author: Somayyeh Hashemian, MD. Address: Department of Pediatrics, Faculty of Medicine, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran. Tel: +98 (915) 5155802 E-mail: [email protected] 113 April 2019, Volume 7, Issue 2, Number 14 1. Introduction order. Meier et al. first described a case with micro- gnathia, microtia, absent patellae and cryptorchidism rimordial Dwarfism (PD) is a group of disor- in 1959 (7). Further clinical diagnostic criteria of these ders with significant prenatal and postnatal subtypes are presented in Table 1. growth retardation and various clinical ab- normalities that differ from one type to an- We presented 7 patients with different clinical presen- P other (1). PD is characterized by intrauterine tations of this disorder. All cases had growth retardation growth retardation, low birth weight, and Small (bones from birth and other clinical features that helped us and body organs) for Gestational Age (SGA). Female and to diagnose the disorder described below. The current male patients are equally affected and look smaller in study aimed to present this disorder in Iran with its dif- size (weight and height) compared to normal individuals ferent types for the first time. Genetic samples were (2). The main specific feature of PD that differentiates not included in this study due to limitations in genetic it from other forms of dwarfism is reduced head size in assays and the expenses of that, in our country. We proportion to body, called “microcephalic primordial present these cases of primordial dwarfism and their dwarfism.” There is only 1 subtype of PD with normal clinical features as the first time for clinicians and other head size, called Russell-Silver Syndrome (RSS). Clinical health care groups. findings vary from one subtype to another. Molecular, genetic and chromosomal changes can contribute in de- 2. Case Presentation velopment of PD (3). 2.1. Case 1 PD is a rare heterogeneous condition and diagnostic category including specific features in 5 major subtypes. An 18-month-old girl was the second born child of The main feature in all subtypes is prenatal and post- non-consanguineous, healthy parents. She was born at natal growth retardation. Patients are very small for 40 weeks of gestation. Pregnancy was complicated by their age and sex. They are diagnosed with Intrauterine Intrauterine Growth Retardation (IUGR). Birth weight Growth Retardation (IUGR) and often have premature was 1940 g, height was 42 cm and head circumference delivery and low birth weight (SGA). Growth delay con- was 31 cm, all below the third percentile. Physical ex- tinues after birth (1). amination revealed dysmorphic features, microcephaly, narrow face, receding mandible, pointed nose, dental Five subtypes in PD include Seckel syndrome, Majew- alterations, microphthalmia (Figure 1a). Other findings ski Osteodysplastic Primordial Dwarfism (MOPD type I/ were developmental delay in speech and motor skills, III), MOPD type II, Meier-Gorlin syndrome and Russell- as well as strabismus and cataract in ophthalmologic Silver Syndrome (1). Russell-Silver syndrome is a specific tests. Her older sister had normal physical appearance group of patients with normal head size; other types and mental growth. A diagnosis of Seckel syndrome was have microcephaly (3). Seckel Syndrome (SS) is a rare made based on these clinical findings. autosomal recessive disorder (4) and first defined by Seckel in 1960. He described 2 case studies by himself 2.2. Case 2 and 13 cases documented in the literature, over a 200- A 5-year-old girl who was the first born child of non- year period, characterized by severe microcephaly, large consanguineous parents who was born at preterm beaked nose, and mild to moderate mental retardation with gestational age of 35 weeks and IUGR delivery. and called it bird-headed dwarfism (5). Her birth weight was 870 g, her head circumference In 1982, Majewski et al. introduced the term os- was 25 cm and birth height was 44 cm, all under the teodysplastic primordial dwarfism through literature third percentile. Her latest weight was 10 kg (-6.2 SDS review. They classified it in 3 categories according to [Standard Deviation Score]), with head circumference growth and mental retardation, bony anomalies and of 36 cm and height of 92 cm (-3.6 SDS). According to specific radiologic findings(6) . Russell-Silver syndrome the clinical findings, she had severe growth retarda- was first reported by Russell and Silver in the 1950’s tion, microcephaly, narrow face, receding mandible, and 1960’s. The characteristic features of Russell-Silver large eyes, dental anomalies and odonthia, bilateral syndrome are low birth weight, short stature, body sensory neural hearing loss, flexion contracture of asymmetry and normal head size (1). Meier-Gorlin hand finger and mild mental retardation. She was di- syndrome (ear-patella-short stature syndrome) is an- agnosed with Seckel syndrome (Figure 1b). other type of PD that is an autosomal recessive dis- 114 Vakili R, et al. Primordial Dwarfism. J Pediatr Rev. 2019; 7(2):113-120. April 2019, Volume 7, Issue 2, Number 14 Table 1. Subtypes of primordial dwarfism and their corresponding clinical features Primordial Dwarfism Subtypes Clinical Features Severe microcephaly, narrow face, large beaked nose, receding mandible, micrognathia, low-set Seckel Syndrome ears, dental anomalies, clinodactyly MOPD type I/III Microcephaly, bone dysplasia, dry skin, thinning of scalp hair and eyebrows, bone anomalies Microcephaly, prominent nose and eyes and narrow face, microdontia or missing teeth, skeletal MOPD type II anomalies, abnormal pigmentary changes, squeaky voice Small triangular face, body asymmetry, micrognathia, normal head size, prominent forehead Russell-Silver syndrome (pseudo microcephaly), and dental anomalies Microcephaly, bilateral small ears, hearing loss, absent or hypoplastic patellae, cryptorchidism, Meier-Gorlin syndrome hypogonadism 2.3. Case 3 Puberty signs occurred early at the age of 7. Lab tests de- tected recently developed hematologic abnormalities in An 8-year-old girl, the first born child of consanguine- her (anemia and thrombocytosis). These findings helped ous parents (first cousin parents) who had IUGR at birth us to diagnose MOPD II based on clinical features of such (birth weight 1900 g), and microcephaly. Growth delay patients in other reports. continued after birth. Physical examination revealed a narrow and long midface, high-pitched voice, promi- 2.5. Case 5 nent nose, large eyes, thick eyebrows and small ears. There was feeding problem in infancy. She had the signs A 12-year-old
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