docruДоктор.РуTitle1727-23782713-2994ООО "ГК "РУСМЕДИКАЛ"10.31550/1727-2378-2023-22-7-37-42docru-326Research ArticleЭНДОКРИНОЛОГИЯENDOCRINOLOGYДифференциальная диагностика прогероидного неонатального синдромаDifferential Diagnosis of Progeroid Neonatal Syndromehttps://orcid.org/0000-0001-7363-3093КунгурцеваА. Л.KungurtsevaA. L.

Кунгурцева Анастасия Леонидовна — клинический ординатор кафедры детских болезней Клинического института детского здоровья им. Н.Ф. Филатова 

119021,  г. Москва, ул. Большая Пироговская, д. 19, стр. 2

8 Trubetskaya Str., bld.2, Moscow,  119991

kungurtseva.al@mail.ruhttps://orcid.org/0000-0001-5689-0194ВитебскаяА. В.VitebskayaA. V.

Витебская Алиса Витальевна  — к. м. н., доцент кафедры детских болезней Клинического института детского здоровья им. Н.Ф. Филатова

119021, г. Москва, ул. Большая Пироговская, д. 19, стр. 2

8 Trubetskaya Str., bld.2, Moscow,  119991

dr.vitebskaya@gmail.comФГАУО ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Министерствa здравоохранения Российской Федерации (Сеченовский Университет)РоссияI.M. Sechenov First Moscow State Medical University (Sechenov University)Russian Federation202321022025227ПЕДИАТРИЯ3742Copyright © Кунгурцева А.Л., Витебская А.В., 20252025Кунгурцева А.Л., Витебская А.В.Kungurtseva A.L., Vitebskaya A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://docru.elpub.ru/jour/article/view/326Цель обзора

Цель обзора. Анализ и обобщение литературных данных по проблеме дифференциальной диагностики неонатального прогероидного синдрома.

Основные положения

Основные положения. Один из самых редких представителей синдромов преждевременного старения — неонатальный прогероидный синдром (синдром Видемана–Раутенштрауха). Это ультраорфанное заболевание с аутосомно-рецессивным типом наследования, ассоциированное с мутациями в генах POLR3A, POLR3B, POLR3GL и характеризующееся врожденной липодистрофией и преждевременным старением.

Заболевание проявляется с первых дней жизни: низкие длина и масса тела при рождении, ярко выраженные фенотипические особенности (псевдогидроцефалия, прогероидные черты лица, генерализованная липодистрофия, неонатальные резцы). С течением жизни наблюдается тяжелое поражение бронхолегочной и костной систем, а средняя продолжительность жизни варьирует от 7 мес до 2 лет, но может достигать 27 лет. Дифференциальный диагноз проводится с синдромом Хатчинсона–Гилфорда (прогерией), клинические признаки которого манифестируют в 1,5–2,0 года, а также с Марфано-прогероидной липодистрофией, синдромами Фонтейна и Секкеля.

Заключение

Заключение. Ранняя диагностика необходима для прогноза течения заболевания, подбора лечения и определения дальнейшей тактики ведения

Aim

Aim. Аnalysis and synthesis of the literature data on the problem of differential diagnosis of neonatal progeroid syndrome.

Key points

Key points. One of the rarest representatives of premature aging syndromes is neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome). It is an ultra-orphan disease with autosomal recessive type of inheritance, associated with a mutation in the POLR3A, POLR3B, POLR3GL genes and characterized by congenital lipodystrophy and premature aging.

The disease manifests from the first days of life: low body length and weight at birth, pronounced phenotypic features (pseudohydrocephaly, progeroid facial features, generalized lipodystrophy, neonatal incisors). Severe bronchopulmonary and skeletal damage is seen over the course of life, and average life expectancy ranges from 7 months to 2 years but can reach 27 years. The differential diagnosis is made with Hutchinson–Gilford syndrome (progeria), which clinical signs manifest at 1.5-2 years of age, and with Marfan-progeroid lipodystrophy, Fontaine syndrome, and Sekkel syndrome.

Conclusion

Conclusion. Early diagnostics is necessary for predicting the course of the disease, selection of treatment, and determining of further management.

неонатальный прогероидный синдромсиндром Видемана–Раутенштраухасиндромы преждевременного старенияneonatal progeroid syndromeWiedemann–Rautenstrauch syndromepremature aging syndromesReferencesГолоунина О.О., Фадеев В.В., Белая Ж.Е. Наследственные синдромы с признаками преждевременного старения. Остеопороз и остеопатии. 2019;22(3):4–18.Golounina O.O., Fadeev V.V., Belaya Z.E. Hereditary syndromes with signs of premature aging. Osteoporos. Bone Dis. 2019;22(3):4–18. (in Russian)Dereure O., Marque M., Guillot B. Syndromes avec vieillissement cutané prématuré: de l'expression phénotypique au gène [Premature aging syndromes: from phenotype to gene]. Ann. Dermatol. Venereol. 2008;135(6–7):466–78. (in French). DOI: 10.1016/j.annder.2008.04.006Dereure O., Marque M., Guillot B. Syndromes avec vieillissement cutané prématuré: de l'expression phénotypique au gène [Premature aging syndromes: from phenotype to gene]. Ann. Dermatol. Venereol. 2008;135(6–7):466–78. (in French). DOI: 10.1016/j.annder.2008.04.006Toriello H.V. Wiedemann–Rautenstrauch syndrome. J. Med. Genet. 1990;27(4):256–7. DOI: 10.1136/jmg.27.4.256Toriello H.V. Wiedemann–Rautenstrauch syndrome. J. Med. Genet. 1990;27(4):256–7. DOI: 10.1136/jmg.27.4.256Paolacci S., Bertola D., Franco J. et al. Wiedemann–Rautenstrauch syndrome: a phenotype analysis. Am. J. Med. Genet. A. 2017;173(7): 1763–1772. DOI: 10.1002/ajmg.a.38246Paolacci S., Bertola D., Franco J. et al. Wiedemann–Rautenstrauch syndrome: a phenotype analysis. Am. J. Med. Genet. A. 2017;173(7): 1763–1772. DOI: 10.1002/ajmg.a.38246Temel S.G., Ergoren M.C., Manara E. et al. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann– Rautenstrauch syndrome. Eur. J. Hum. Genet. 2020;28(12):1675–1680. DOI: 10.1038/s41431-020-0673-1Temel S.G., Ergoren M.C., Manara E. et al. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann– Rautenstrauch syndrome. Eur. J. Hum. Genet. 2020;28(12):1675–1680. DOI: 10.1038/s41431-020-0673-1Bernard G., Vanderver A. POLR3-related leukodystrophy. In: Adam M.P., Everman D.B., Mirzaa G.M. et al. (eds.) GeneReviews. Seattle; 2012.Bernard G., Vanderver A. POLR3-related leukodystrophy. In: Adam M.P., Everman D.B., Mirzaa G.M. et al. (eds.) GeneReviews. Seattle; 2012.Dinleyici E.C., Tekin N., Dinleyici M., Aksit M.A. Clinical and laboratory findings of two newborns with Wiedemann–Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. J. Pediatr. Endocrinol. Metab. 2008;21(6):591–596.Dinleyici E.C., Tekin N., Dinleyici M., Aksit M.A. Clinical and laboratory findings of two newborns with Wiedemann–Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. J. Pediatr. Endocrinol. Metab. 2008;21(6):591–596.Rautenstrauch T., Snigula F., Krieg T. et al. Progeria: a cell culture study and clinical report of familial incidence. Eur. J. Pediatr. 1977;124: 101–111.Rautenstrauch T., Snigula F., Krieg T. et al. Progeria: a cell culture study and clinical report of familial incidence. Eur. J. Pediatr. 1977;124: 101–111.Wiedemann H.R. An unidentified neonatal progeroid syndrome: followup report. Eur. J. Pediatr. 1979;130:65–70. 10. Stoll C., Labay F., Geisert J., Alembik Y. Wiedemann–Rautenstrauch syndrome. A case report and review of the literature. Genet. Couns. 1998;9(2):119–124.Wiedemann H.R. An unidentified neonatal progeroid syndrome: followup report. Eur. J. Pediatr. 1979;130:65–70. 10. Stoll C., Labay F., Geisert J., Alembik Y. Wiedemann–Rautenstrauch syndrome. A case report and review of the literature. Genet. Couns. 1998;9(2):119–124.Paolacci S., Bertola D., Franco J. et al. Wiedemann–Rautenstrauch syndrome: a phenotype analysis. Am. J. Med. Genet. A. 2017;173(7):1763–1772. DOI: 10.1002/ajmg.a.38246Paolacci S., Bertola D., Franco J. et al. Wiedemann–Rautenstrauch syndrome: a phenotype analysis. Am. J. Med. Genet. A. 2017;173(7):1763–1772. DOI: 10.1002/ajmg.a.38246Báez-Becerra C.T., Valencia-Rincón E., Velásquez-Méndez K. et al. Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann–Rautenstrauch syndrome fibroblasts. Mech. Ageing Dev. 2020;192:111360. DOI: 10.1016/j.mad.2020.111360Báez-Becerra C.T., Valencia-Rincón E., Velásquez-Méndez K. et al. Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann–Rautenstrauch syndrome fibroblasts. Mech. Ageing Dev. 2020;192:111360. DOI: 10.1016/j.mad.2020.111360Beauregard-Lacroix E., Salian S., Kim H. et al. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur. J. Hum. Genet. 2020;28(4):461–468. DOI: 10.1038/s41431-019-0539-6Beauregard-Lacroix E., Salian S., Kim H. et al. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur. J. Hum. Genet. 2020;28(4):461–468. DOI: 10.1038/s41431-019-0539-6Lessel D., Ozel A.B., Campbell S.E. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum. Genet. 2018;137(11–12):921–939. DOI: 10.1007/s00439-018-1957-1Lessel D., Ozel A.B., Campbell S.E. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum. Genet. 2018;137(11–12):921–939. DOI: 10.1007/s00439-018-1957-1Wambach J.A., Wegner D.J., Patni N. et al. Bi-allelic POLR3A loss-offunction variants cause autosomal-recessive Wiedemann–Rautenstrauch syndrome. Am. J. Hum. Genet. 2018;103(6):968–975. DOI: 10.1016/j.ajhg.2018.10.010Wambach J.A., Wegner D.J., Patni N. et al. Bi-allelic POLR3A loss-offunction variants cause autosomal-recessive Wiedemann–Rautenstrauch syndrome. Am. J. Hum. Genet. 2018;103(6):968–975. DOI: 10.1016/j.ajhg.2018.10.010Vannini A., Ringel R., Kusser A.G. et al. Molecular basis of RNA polymerase III transcription repression by Maf1. Cell. 2010;143(1):59– 70. DOI: 10.1016/j.cell.2010.09.002Vannini A., Ringel R., Kusser A.G. et al. Molecular basis of RNA polymerase III transcription repression by Maf1. Cell. 2010;143(1):59– 70. DOI: 10.1016/j.cell.2010.09.002Wu S.W., Li L., Feng F. et al. Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann–Rautenstrauch syndrome. Ital. J. Pediatr. 2021;47(1):160. DOI: 10.1186/s13052-021-01112-6Wu S.W., Li L., Feng F. et al. Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann–Rautenstrauch syndrome. Ital. J. Pediatr. 2021;47(1):160. DOI: 10.1186/s13052-021-01112-6Saitsu H., Osaka H., Sasaki M. et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomalrecessive hypomyelinating leukoencephalopathy. Am. J. Hum. Genet. 2011;89(5):644–651. DOI: 10.1016/j.ajhg.2011.10.003Saitsu H., Osaka H., Sasaki M. et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomalrecessive hypomyelinating leukoencephalopathy. Am. J. Hum. Genet. 2011;89(5):644–651. DOI: 10.1016/j.ajhg.2011.10.003Verberne E.A., Dalen Meurs L., Wolf N.I., van Haelst M.M. 4H leukodystrophy caused by a homozygous POLR3B mutation: further delineation of the phenotype. Am. J. Med. Genet. A. 2020;182(7):1776–1779. DOI: 10.1002/ajmg.a.61600Verberne E.A., Dalen Meurs L., Wolf N.I., van Haelst M.M. 4H leukodystrophy caused by a homozygous POLR3B mutation: further delineation of the phenotype. Am. J. Med. Genet. A. 2020;182(7):1776–1779. DOI: 10.1002/ajmg.a.61600Jay A.M., Conway R.L., Thiffault I. et al. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am. J. Med. Genet. A. 2016;170(12):3343–3346. DOI: 10.1002/ajmg.a.37960Jay A.M., Conway R.L., Thiffault I. et al. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am. J. Med. Genet. A. 2016;170(12):3343–3346. DOI: 10.1002/ajmg.a.37960Lessel D., Rading K., Campbell S.E. et al. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3Arelated pathologies. Am. J. Med. Genet A. 2022;188(1):216–223. DOI: 10.1002/ajmg.a.62525Lessel D., Rading K., Campbell S.E. et al. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3Arelated pathologies. Am. J. Med. Genet A. 2022;188(1):216–223. DOI: 10.1002/ajmg.a.62525Муртазина А.Ф., Маркова Т.В., Орлова А.А. и др. POLR3Aассоциированная гипомиелинизированная лейкодистрофия: описание клинического случая и обзор литературы. Нервно-мышечные болезни. 2021;11(4):48–54.Муртазина А.Ф., Маркова Т.В., Орлова А.А. и др. POLR3Aассоциированная гипомиелинизированная лейкодистрофия: описание клинического случая и обзор литературы. Нервно-мышечные болезни. 2021;11(4):48–54.Murtazina A.F., Markova T.V., Orlova A.A. et al. POLR3A-related hypomyelinating leukodystrophy: case report and literature review. Neuromuscular Diseases. 2021;11(4):48–54. (in Russian). DOI: 10.17650/2222-8721-2021-11-4-48-54Murtazina A.F., Markova T.V., Orlova A.A. et al. POLR3A-related hypomyelinating leukodystrophy: case report and literature review. Neuromuscular Diseases. 2021;11(4):48–54. (in Russian). DOI: 10.17650/2222-8721-2021-11-4-48-54Moon B., Kim M., Kim H.J. et al. Biallelic POLR3A variants cause Wiedemann–Rautenstrauch syndrome with atypical brain involvement: a case report. Clin. Exp. Pediatr. 2023;66(3):142–144. DOI: 10.3345/cep.2022.01144Moon B., Kim M., Kim H.J. et al. Biallelic POLR3A variants cause Wiedemann–Rautenstrauch syndrome with atypical brain involvement: a case report. Clin. Exp. Pediatr. 2023;66(3):142–144. DOI: 10.3345/cep.2022.01144Beauregard-Lacroix E., Salian S., Kim H. et al. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur. J. Hum. Genet. 2020;28:461–468. DOI: 10.1038/s41431-019-0539-6Beauregard-Lacroix E., Salian S., Kim H. et al. A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur. J. Hum. Genet. 2020;28:461–468. DOI: 10.1038/s41431-019-0539-6Terhal P.A., Vlaar J.M., Middelkamp S. et al. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. Eur. J. Hum. Genet. 2020;28(1):31–39. DOI: 10.1038/s41431-019-0427-0Terhal P.A., Vlaar J.M., Middelkamp S. et al. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. Eur. J. Hum. Genet. 2020;28(1):31–39. DOI: 10.1038/s41431-019-0427-0Ulrich J., Rudin C., Bubl R., Riederer B.M. The neonatal progeroid syndrome (Wiedemann–Rautenstrauch) and its relationship to Pelizaeus– Merzbacher's disease. Neuropathol. Appl. Neurobiol. 1995;21(2): 116–120. DOI: 10.1111/j.1365-2990.1995.tb01037.xUlrich J., Rudin C., Bubl R., Riederer B.M. The neonatal progeroid syndrome (Wiedemann–Rautenstrauch) and its relationship to Pelizaeus– Merzbacher's disease. Neuropathol. Appl. Neurobiol. 1995;21(2): 116–120. DOI: 10.1111/j.1365-2990.1995.tb01037.xMartin J.J., Ceuterick C.M., Leroy J.G. et al. The Wiedemann– Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. Neuropediatrics. 1984;15(1):43–48. DOI: 10.1055/s-2008-1052339Martin J.J., Ceuterick C.M., Leroy J.G. et al. The Wiedemann– Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. Neuropediatrics. 1984;15(1):43–48. DOI: 10.1055/s-2008-1052339Hou J.W. Natural course of neonatal progeroid syndrome. Pediatr. Neonatol. 2009;50(3):102–109. DOI: 10.1016/S1875-9572(09)60044-9Hou J.W. Natural course of neonatal progeroid syndrome. Pediatr. Neonatol. 2009;50(3):102–109. DOI: 10.1016/S1875-9572(09)60044-9Castiñeyra G., Panal M., Lopez Presas H. et al. Two sibs with Wiedemann– Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. J. Med. Genet. 1992;29(6):434–436. DOI: 10.1136/jmg.29.6.434Castiñeyra G., Panal M., Lopez Presas H. et al. Two sibs with Wiedemann– Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. J. Med. Genet. 1992;29(6):434–436. DOI: 10.1136/jmg.29.6.434Dinleyici E.C., Tekin N., Dinleyici M., Aksit M.A. Clinical and laboratory findings of two newborns with Wiedemann–Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. J. Pediatr. Endocrinol. Metab. 2008;21(6):591–596.Dinleyici E.C., Tekin N., Dinleyici M., Aksit M.A. Clinical and laboratory findings of two newborns with Wiedemann–Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. J. Pediatr. Endocrinol. Metab. 2008;21(6):591–596.Hoppen T., Naumann A., Theile U., Rister M. Geschwisterpaar mit neonatalem progeroidem Syndrom (Wiedemann–Rautenstrauch) [Siblings with neonatal progeroid syndrome (Wiedemann–Rautenstrauch)]. Klin. Padiatr. 2004;216(2):70–71. (in German). DOI: 10.1055/s-2004-44895Hoppen T., Naumann A., Theile U., Rister M. Geschwisterpaar mit neonatalem progeroidem Syndrom (Wiedemann–Rautenstrauch) [Siblings with neonatal progeroid syndrome (Wiedemann–Rautenstrauch)]. Klin. Padiatr. 2004;216(2):70–71. (in German). DOI: 10.1055/s-2004-44895O'Neill B., Simha V., Kotha V., Garg A. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. Am. J. Med. Genet. A. 2007;143A(13):1421–1430. DOI: 10.1002/ajmg.a.31840O'Neill B., Simha V., Kotha V., Garg A. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. Am. J. Med. Genet. A. 2007;143A(13):1421–1430. DOI: 10.1002/ajmg.a.31840Nowaczyk M.J., Hughes H.E., Costa T., Clarke J.T. Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Clin. Dysmorphol. 1998;7(4):263–268. DOI: 10.1097/00019605-199810000-00005Nowaczyk M.J., Hughes H.E., Costa T., Clarke J.T. Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Clin. Dysmorphol. 1998;7(4):263–268. DOI: 10.1097/00019605-199810000-00005Bitoun P., Lachassine E., Sellier N. et al. The Wiedemann–Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. Clin. Dysmorphol. 1995;4(3):239–45.Bitoun P., Lachassine E., Sellier N. et al. The Wiedemann–Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. Clin. Dysmorphol. 1995;4(3):239–45.Shawky R.M., Abd-Elkhalek H.S., Gad S., Seifeldin N.S. Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches, Egypt. J. Med. Human Genet. 2012;13(2):227–231.Shawky R.M., Abd-Elkhalek H.S., Gad S., Seifeldin N.S. Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches, Egypt. J. Med. Human Genet. 2012;13(2):227–231.Thorey F., Jäger M., Seller K. et al. Kyphoskoliose beim Wiedemann– Rautenstrauch-Syndrom (neonatales Progerie Syndrom) [Kyphoscoliosis in Wiedemann–Rautenstrauch-syndrome (neonatal progeroid syndrome)]. Z. Orthop. Ihre Grenzgeb. 2003;141(3):341–344. (in German). DOI: 10.1055/s-2003-40084Thorey F., Jäger M., Seller K. et al. Kyphoskoliose beim Wiedemann– Rautenstrauch-Syndrom (neonatales Progerie Syndrom) [Kyphoscoliosis in Wiedemann–Rautenstrauch-syndrome (neonatal progeroid syndrome)]. Z. Orthop. Ihre Grenzgeb. 2003;141(3):341–344. (in German). DOI: 10.1055/s-2003-40084Tunc T., Bulbul A., Erdinc K. et al. The Wiedemann–Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. Genet. Couns. 2009;20(4):367–371.Tunc T., Bulbul A., Erdinc K. et al. The Wiedemann–Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. Genet. Couns. 2009;20(4):367–371.Barkley M.R., O'Hagan S.B. Ophthalmic manifestations in a case of Wiedemann–Rautenstrauch syndrome. J. AAPOS. 2015;19(6):559–561. DOI: 10.1016/j.jaapos.2015.06.006Barkley M.R., O'Hagan S.B. Ophthalmic manifestations in a case of Wiedemann–Rautenstrauch syndrome. J. AAPOS. 2015;19(6):559–561. DOI: 10.1016/j.jaapos.2015.06.006Korniszewski L., Nowak R., Oknińska-Hoffmann E. et al. Wiedemann– Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. Am. J. Med. Genet. 2001;103(2): 144–148. DOI: 10.1002/ajmg.1530Korniszewski L., Nowak R., Oknińska-Hoffmann E. et al. Wiedemann– Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. Am. J. Med. Genet. 2001;103(2): 144–148. DOI: 10.1002/ajmg.1530Lyčka M., Peska V., Demko M. et al. WALTER: an easy way to online evaluate telomere lengths from terminal restriction fragment analysis. BMC Bioinformatics. 2021;22:145.Lyčka M., Peska V., Demko M. et al. WALTER: an easy way to online evaluate telomere lengths from terminal restriction fragment analysis. BMC Bioinformatics. 2021;22:145.Rautenstrauch T., Snigula F., Wiedemann H.R. Neonatales progeroides Syndrom (Wiedemann–Rautenstrauch). Eine follow-up-Studie [Neonatal progeroid syndrome (Wiedemann–Rautenstrauch). A follow-up study]. Klin. Padiatr. 1994;206(6):440–443. (in German). DOI: 10.1055/s2008-1046647Rautenstrauch T., Snigula F., Wiedemann H.R. Neonatales progeroides Syndrom (Wiedemann–Rautenstrauch). Eine follow-up-Studie [Neonatal progeroid syndrome (Wiedemann–Rautenstrauch). A follow-up study]. Klin. Padiatr. 1994;206(6):440–443. (in German). DOI: 10.1055/s2008-1046647DeBusk F.L. The Hutchinson–Gilford progeria syndrome. Report of 4 cases and review of the literature. J. Pediatr. 1972;80(4):697–724.DeBusk F.L. The Hutchinson–Gilford progeria syndrome. Report of 4 cases and review of the literature. J. Pediatr. 1972;80(4):697–724.Kreienkamp R., Gonzalo S. Metabolic dysfunction in Hutchinson–Gilford progeria syndrome. Cells. 2020;9(2):395.Kreienkamp R., Gonzalo S. Metabolic dysfunction in Hutchinson–Gilford progeria syndrome. Cells. 2020;9(2):395.Agarwal U.S., Sitaraman S., Mehta S., Panse G. Hutchinson–Gilford progeria syndrome. Indian J. Dermatol. Venereol. Leprol. 2010;76(5):591.Agarwal U.S., Sitaraman S., Mehta S., Panse G. Hutchinson–Gilford progeria syndrome. Indian J. Dermatol. Venereol. Leprol. 2010;76(5):591.Jacquinet A., Verloes A., Callewaert B. et al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. Eur. J. Med. Genet. 2014;57(5):230–234. DOI: 10.1016/j.ejmg.2014.02.012Jacquinet A., Verloes A., Callewaert B. et al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. Eur. J. Med. Genet. 2014;57(5):230–234. DOI: 10.1016/j.ejmg.2014.02.012Passarge E., Robinson P., Graul-Neumann L. Marfanoid–progeroid– lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur. J. Hum. Genet. 2016;24:1244–1247.Passarge E., Robinson P., Graul-Neumann L. Marfanoid–progeroid– lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur. J. Hum. Genet. 2016;24:1244–1247.Braddock S.R., Ardinger H.H., Yang C.S. et al. Petty syndrome and Fontaine–Farriaux syndrome: delineation of a single syndrome. Am. J. Med. Genet A. 2010;152A(7):1718–23. DOI: 10.1002/ajmg.a.33468Braddock S.R., Ardinger H.H., Yang C.S. et al. Petty syndrome and Fontaine–Farriaux syndrome: delineation of a single syndrome. Am. J. Med. Genet A. 2010;152A(7):1718–23. DOI: 10.1002/ajmg.a.33468Lally S., Walsh N., Kenny J. et al. Fontaine progeroid syndrome — a case report. Clin. Case Rep. 2022;10(9):e6291. DOI: 10.1002/ccr3.6291Lally S., Walsh N., Kenny J. et al. Fontaine progeroid syndrome — a case report. Clin. Case Rep. 2022;10(9):e6291. DOI: 10.1002/ccr3.6291Saeidi M., Shahbandari M. A child with Seckel syndrome and arterial stenosis: case report and literature review. Int. Med. Case Rep. J. 2020;13:159–163. DOI: 10.2147/IMCRJ.S241601Saeidi M., Shahbandari M. A child with Seckel syndrome and arterial stenosis: case report and literature review. Int. Med. Case Rep. J. 2020;13:159–163. DOI: 10.2147/IMCRJ.S241601Sisodia R., Raj R.K., Goel V. Seckel syndrome: a rare case report. J. Indian Soc. Pedod. Prev. Dent. 2014;32(2):160–163. DOI: 10.4103/0970-4388.130983Sisodia R., Raj R.K., Goel V. Seckel syndrome: a rare case report. J. Indian Soc. Pedod. Prev. Dent. 2014;32(2):160–163. DOI: 10.4103/0970-4388.130983

The authors declare that there are no conflicts of interest present.