Novel Physique Index for the Screening of Skeletal Dysplasia at Birth
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design
2.2. Definitions
2.3. Study Methods and Statistical Analyses
3. Results
3.1. Study 1
3.2. Study 2
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
- Tiller, G.E.; Bellus, G.A. Skeletal dysplasia and heritable connective tissue disorders. In Avery’s Diseases of the Newborn, 10th ed.; Gleason, C.A., Juul, S., Eds.; Elsevier: Philadelphia, PA, USA, 2018; pp. 1450–1467. [Google Scholar]
- Unger, S.; Bonafé, L.; Gouze, E. Current Care and Investigational Therapies in Achondroplasia. Curr. Osteoporos. Rep. 2017, 15, 53–60. [Google Scholar] [CrossRef] [Green Version]
- Pereira, E. Achondroplasia. Pediatr. Rev. 2019, 40, 316–318. [Google Scholar] [CrossRef] [PubMed]
- Pauli, R.M. Achondroplasia: A comprehensive clinical review. Orphanet J. Rare Dis. 2019, 14, 1–49. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Krakow, D. Skeletal Dysplasias. Clin. Perinatol. 2015, 42, 301–319. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Saito, T.; Nagasaki, K.; Nishimura, G.; Wada, M.; Nyuzuki, H.; Takagi, M.; Hasegawa, T.; Amano, N.; Murotsuki, J.; Sawai, H.; et al. Criteria for radiologic diagnosis of hypo-chondroplasia in neonates. Pediatr. Radiol. 2016, 46, 513–518. [Google Scholar] [CrossRef] [PubMed]
- Todros, T.; Massarenti, I.; Gaglioti, P.; Biolcati, M.; Botta, G.; Felice, C. Fetal short femur length in the second trimester and the outcome of pregnancy. BJOG Int. J. Obstet. Gynaecol. 2004, 111, 83–85. [Google Scholar] [CrossRef]
- Kurtz, A.B.; Needleman, L.; Wapner, R.J.; Hilpert, P.; Kuhlman, K.; Burns, P.N.; I Feld, R.; Mitchell, D.G.; Segal, S.; Blum, L. Usefulness of a short femur in the in utero detection of skeletal dysplasias. Radiol. 1990, 177, 197–200. [Google Scholar] [CrossRef]
- Del Pino, M.; Orden, A.B.; Arenas, M.A.; Fano, V. Argentine references for the assessment of body proportions from birth to 17 years of age. Arch. Argent. Pediatr. 2017, 115, 234–240. [Google Scholar] [CrossRef]
- Saunders, C.L.; Lejarraga, H.; Del Pino, M. Assessment of head size adjusted for height: An anthropometric tool for clinical use based on Argentinian data. Ann. Hum. Biol. 2006, 33, 415–423. [Google Scholar] [CrossRef]
- Goncalves, L.; Jeanty, P. Fetal biometry of skeletal dysplasias: A multicentric study. J. Ultrasound Med. 1994, 13, 977–985. [Google Scholar] [CrossRef] [PubMed]
- Takagi, M.; Kaneko-Schmitt, S.; Suzumori, N.; Nishimura, G.; Hasegawa, T. Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. Am. J. Med Genet. Part A 2011, 158A, 247–250. [Google Scholar] [CrossRef]
- Kusano, C.; Takagi, M.; Hori, N.; Murotsuki, J.; Nishimura, G.; Hasegawa, T. A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita. Hum. Genome Var. 2017, 4, 17003. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Farrington-Rock, C.; Firestein, M.H.; Bicknell, L.S.; Superti-Furga, A.; Bacino, C.A.; Cormier-Daire, V.; Le Merrer, M.; Baumann, C.; Roume, J.; Rump, P.; et al. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum. Mutat. 2006, 27, 705–710. [Google Scholar] [CrossRef]
- Itabashi, K.; Miura, F.; Uehara, R.; Nakamura, Y. New Japanese neonatal anthropometric charts for gestational age at birth. Pediatr. Int. 2014, 56, 702–708. [Google Scholar] [CrossRef] [PubMed]
- Fujita, K.; Nagasaka, M.; Iwatani, S.; Koda, T.; Kurokawa, D.; Yamana, K.; Nishida, K.; Taniguchi-Ikeda, M.; Uchino, E.; Shirai, C.; et al. Prevalence of small for gestational age (SGA) and short stature in children born SGA who qualify for growth hormone treatment at 3 years of age: Population-based study. Pediatr. Int. 2015, 58, 372–376. [Google Scholar] [CrossRef]
- Fluss, R.; Faraggi, D.; Reiser, B. Estimation of the Youden Index and its Associated Cutoff Point. Biom. J. 2005, 47, 458–472. [Google Scholar] [CrossRef] [Green Version]
- Flechtner, I.; Lambot-Juhan, K.; Teissier, R.; Colmenares, A.; Baujat, G.; Beltrand, J.; Ajaltouni, Z.; Pauwels, C.; Pinto, G.; Samara-Boustani, D.; et al. Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients. Eur. J. Endocrinol. 2014, 170, 677–684. [Google Scholar] [CrossRef] [Green Version]
- Hattori, K.; Hirohara, T. Age change of power in weight/height(p) indices used as indicators of adiposity in Japanese. Am. J. Hum. Biol. 2002, 14, 275–279. [Google Scholar] [CrossRef] [PubMed]
- Lehingue, Y.; Remontet, L.; Munoz, F.; Mamelle, N. Birth ponderal index and body mass index reference curves in a large population. Am. J. Hum. Biol. 1998, 10, 327–340. [Google Scholar] [CrossRef]
- Tzamaloukas, A.H.; Murata, G.H.; E Hill, J.; Leger, A.; Macdonald, L.; Baron, S.; Hoffman, R.M. Disagreement between height/weight classifications of underweight, normal weight, and obesity in peritoneal dialysis patients. Adv. Perit. Dial. Conf. Perit. Dial. 2001, 17, 75–79. [Google Scholar]
- Nagasaka, M.; Morioka, I.; Yokota, T.; Fujita, K.; Kurokawa, D.; Koda, T.; Shibata, A.; Yamada, H.; Ito, Y.; Uchino, E.; et al. Incidence of short stature at 3 years of age in late preterm infants: A population-based study. Arch. Dis. Child. 2014, 100, 250–254. [Google Scholar] [CrossRef] [PubMed]
- Japan Society of Obstetrics and Gynecology. A guideline for the clinical practice for obstetrics and gynecology. Obstetrics 2017, 2017, 105–109. [Google Scholar]
A. Physique | |||||||
---|---|---|---|---|---|---|---|
Case | SDS of Fetal FL (GA at Measurement) | GA at Birth | W (g) | HT (cm) | HC (cm) | HC/HT | W/Wcorr × (HC/HT)3 |
1 | −4.3 (36 weeks) | 39 weeks 0 days | 3088 | 46.0 | 35.0 | 0.76 | 0.45 |
2 | −3.9 (30 weeks) | 33 weeks 1 day | 2000 | 41.3 | 33.2 | 0.80 | 0.53 |
3 | −4.4 (36 weeks) | 37 weeks 6 days | 3068 | 45.5 | 36.2 | 0.80 | 0.57 |
4 | −6.0 (38 weeks) | 39 weeks 2 days | 2988 | 41.3 | 35.5 | 0.86 | 0.63 |
5 | −6.8 (36 weeks) | 37 weeks 0 days | 2570 | 40.5 | 37.2 | 0.92 | 0.75 |
6 | −7.8 (37 weeks) | 38 weeks 2 days | 2612 | 37.0 | 34.2 | 0.92 | 0.72 |
7 | −11.4 (36 weeks) | 36 weeks 4 days | 1762 | 31.0 | 32.7 | 1.10 | 0.80 |
8 | −3.2 (27 weeks) | 27 weeks 2 days | 680 | 32.1 | 25.4 | 0.79 | 0.32 |
9 | −5.1 (30 weeks) | 30 weeks 6 days | 684 | 32.2 | 26 | 0.81 | 0.23 |
10 | −3.4 (39 weeks) | 39 weeks 5 days | 2010 | 44.2 | 30.5 | 0.69 | 0.21 |
11 | −3.4 (35 weeks) | 36 weeks 2 days | 2014 | 43.1 | 31.5 | 0.73 | 0.31 |
B. Radiological and Genetic Findings | |||||||
Case | Radiological Findings | Genetic Findings | Final Diagnosis | ||||
1 | Large calvarium, dorsal scalloping of vertebral bodies, horizontal acetabular margins, narrow sciatic notch, short tubular bones, oval radiolucent area in the proximal femur, cone-shaped middle phalanges, and trident hand | FGFR3 c.1138 G>A p.Gly380Arg | Achondroplasia | ||||
2 | Protuberance of frontal bones, small skull base, horizontal acetabular margins, narrow sciatic notch, mild short tubular bones, cone-shaped middle phalanges, and trident hand. No evidence of dorsal scalloping of vertebral bodies and metaphyseal flaring of the distal femur | NE | Hypochondroplasia | ||||
3 | Protuberance of frontal bones, horizontal acetabular margins, narrow sciatic notch, mild short tubular bones, cone-shaped middle phalanges, and trident hand. No evidence of metaphyseal flaring of the distal femur | FGFR3 c.1620C>A p.Asn540Lys | Hypochondroplasia | ||||
4 | Lack of ossification of the os pubis, distal femur, and proximal tibial epiphyses. Pear-shaped vertebra, short iliac bones in craniocaudal dimension, and horizontal acetabular margins | COL2A1 c.5404del | Spondyloepiphyseal dysplasia congenita | ||||
5 | Lack of ossification of the os pubis, distal femur, and proximal tibial epiphyses. Pear-shaped vertebra and horizontal acetabular margins | COL2A1 c.2094G>A p.Gly699Asp | Spondyloepiphyseal dysplasia congenita | ||||
6 | Small vertebral bodies and coronal clefts throughout the thoracic and lumbar spine, flared iliac wings, steep acetabula, and disproportionately short and distally tapered humerus and femur | FLNB c.650C>T p.Pro217Leu | Atelosteogenesis type III | ||||
7 | Narrow thorax due to a short rim; distinct flatness of the ossification centers of the vertebral bodies; horizontal inferior margins of the iliac bones; and very short, broad, and bowed long tubular bones | NE | Thanatophoric dysplasia | ||||
8 | Normal | NE | SGA | ||||
9 | Normal | NE | SGA | ||||
10 | Normal | NE | SGA | ||||
11 | Normal | NE | SGA |
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Share and Cite
Aoki, R.; Nagano, N.; Okahashi, A.; Ohashi, S.; Fujinaka, Y.; Takigawa, I.; Masunaga, K.; Morioka, I. Novel Physique Index for the Screening of Skeletal Dysplasia at Birth. Children 2021, 8, 331. https://doi.org/10.3390/children8050331
Aoki R, Nagano N, Okahashi A, Ohashi S, Fujinaka Y, Takigawa I, Masunaga K, Morioka I. Novel Physique Index for the Screening of Skeletal Dysplasia at Birth. Children. 2021; 8(5):331. https://doi.org/10.3390/children8050331
Chicago/Turabian StyleAoki, Ryoji, Nobuhiko Nagano, Aya Okahashi, Shoko Ohashi, Yoshinori Fujinaka, Itsuro Takigawa, Ken Masunaga, and Ichiro Morioka. 2021. "Novel Physique Index for the Screening of Skeletal Dysplasia at Birth" Children 8, no. 5: 331. https://doi.org/10.3390/children8050331