Blask AR, Rubio EI, Chapman KA, Lawrence AK, Bulas DI. Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata. Pediatr Radiol. 2018;48(7):979–91.

Article  PubMed  PubMed Central  Google Scholar 

Quarrell OW, Koch M, Hughes HE. Maxillonasal dysplasia (Binder’s syndrome). J Med Genet. 1990;27(6):384–7.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Delaire J, Tessier P, Tulasne JF, Resche F. Clinical and radiologic aspects of maxillonasal dysostosis (Binder syndrome). Head Neck Surg. 1980;3(2):105–22.

CAS  Article  PubMed  Google Scholar 

Sheffield LJ, Danks DM, Mayne V, Hutchinson AL. Chondrodysplasia punctata-23 cases of a mild and relatively common variety. J Pediatr. 1976;89(6):916–23.

CAS  Article  PubMed  Google Scholar 

Oztürk H, Ipek A, Tan S, YenerÖztürk S, Keskin S, Kurt A, et al. Evaluation of fetal nasofrontal angle in the second trimester in normal pregnancies. J Clin Ultrasound JCU. 2011;39(1):18–20.

Article  PubMed  Google Scholar 

Gentili P, Trasimeni A, Giorlandino C. Fetal ossification centers as predictors of gestational age in normal and abnormal pregnancies. J Ultrasound Med. 1984;3(5):193–7.

CAS  Article  PubMed  Google Scholar 

Goldstein I, Reece EA, Hobbins JC. Sonographic appearance of the fetal heel ossification centers and foot length measurements provide independent markers for gestational age estimation. Am J Obstet Gynecol. 1988;159(4):923–6.

CAS  Article  PubMed  Google Scholar 

Dias MS. Normal and Abnormal Development of the Spine. Neurosurg Clin N Am. 2007;18(3):415–29.

Article  PubMed  Google Scholar 

Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, et al. Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. Clin Genet. 1990;38(2):84–93.

CAS  Article  PubMed  Google Scholar 

Mottet N, Chaussy Y, Auber F, Guimiot F, Arbez-Gindre F, Riethmuller D, et al. How to explore fetal sacral agenesis without open dysraphism: key prenatal imaging and clinical implications. J Ultrasound Med. 2018;37(7):1807–20.

Article  PubMed  Google Scholar 

Binder KH. Disostosis maxillo-nasalis, ein arhinencephaler Missbildungscomplex. Dtsch. Zahnaerztlz; 1962.

Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229–41.

Article  PubMed  Google Scholar 

White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003;118A(4):332–42.

Article  PubMed  Google Scholar 

Shukla A, Phadke SR. Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. Clin Dysmorphol. 2015;24(3):118–21.

Article  PubMed  Google Scholar 

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. 2019;179(12):2393–419.

Article  PubMed  Google Scholar 

Krause C, Rosewich H, Gärtner J. Rational diagnostic strategy for Zellweger syndrome spectrum patients. Eur J Hum Genet. 2009;17(6):741–8.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Johnson JM, Babul-Hirji R, Chitayat D. First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome. Ultrasound Obstet Gynecol. 2001;17(4):344–6.

CAS  Article  PubMed  Google Scholar 

Gregersen PA, McKay V, Walsh M, Brown E, McGillivray G, Savarirayan R. A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders. Mol Genet Genomic Med. 2020;8(6):e1173.

Article  PubMed  PubMed Central  Google Scholar 

Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res. 2011;52(1):6–34.

CAS  Article  PubMed  PubMed Central  Google Scholar 

Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, et al. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Hum Genet. 2003;112(1):78–83.

Article  PubMed  Google Scholar 

Wessels MW, Den Hollander NJ, De Krijger RR, Nikkels PGJ, Brandenburg H, Hennekam R, et al. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review. Am J Med Genet A. 2003;120A(1):97–104.

Article  PubMed  Google Scholar 

Braverman NE, Bober MB, Brunetti-Pierri N, Suchy SF. Chondrodysplasia Punctata 1, X-Linked. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2021 Jul 16]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1544/

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, et al. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. Genet Med. 2013;15(8):650–7.

CAS  Article  PubMed  Google Scholar 

Toriello HV, Erick M, Alessandri J-L, Bailey D, Brunetti-Pierri N, Cox H, et al. Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A. 2013;161A(3):417–29.

Article  PubMed  Google Scholar 

Alrukban H, Chitayat D. Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. Appl Clin Genet. 2018;11:31–44.

CAS  Article  PubMed  PubMed Central  Google Scholar