Case report

A 34-year-old woman was referred to our hospital at 18 weeks of gestation due to abnormal fetal morphological features. She had a past history of gestational diabetes on a previous pregnancy with a male fetus and delivered normally a healthy baby. She is non-consanguineous with her partner and started this new pregnancy.
Down syndrome screening was normal (NT 2,6mm, CRL 60mm ; PAPP-A 1,27 MoM, bHCG 0,74MoM). 
She suffered from recurrent vomiting in early pregnancy and lost weight, approx. 10 kgs.
She had to be admitted in hospital for 3 days for electrolytical support. 
Our US examination at 19 weeks of pregnancy revealed the following findings:

-Fetal biometries were normal.
-Flat profile (superior facial angle >135°), due to nasal cartilage hypoplasia (depressed anterior nasal spine) with preserved nasal bones : this phenotype is commonly known as Binder phenotype.
-Morphologically preserved long bones in utero.
-Punctuated calcifications within tarsal and carpal bones.
-Brachytelephalangy (shortened distal phalanges).
-Axial skeleton appeared normal.

She delivered normally at 39WG a healthy baby with the same peculiar morphological features.

We concluded that the most likely diagnosis would be a sporadic binder phenotype associated with brachytelephalangy and mild chondrodysplasia punctata, induced by maternal vitamin K deficiency, due to hyperemesis gravidarum. (OMIM #118650).

CDP is a radiographic finding comprised of stippled epiphyses (punctate calcifications on radiography). It is often accompanied by additional anomalies such as hypoplasia of the nasal cartilages, as known as maxillonasal dysostosis = Binder phenotype (BP), and abnormal distal digits (brachytelephalangy).
CDP and BP are part of an heterogeneous spectrum entity whose physiopathological process are closely related to vitamin K metabolism. Vitamin K is essential to synthetize cartilage-related matrix proteins, and its cycle may be harmed by genetic (sporadic or transmitted) conditions. An X-linked recessive form involving the ARSE gene has been described.
Others acquired conditions which ultimately lead to maternal vitamin K deficiency (which is a liposoluble vitamin such as vitamin A,D and E) are recurrent vomiting hindering liposoluble vitamin intake, Crohn disease due to ileal malabsorption, anti-vitamin K medication. Some conditions such as alcohol intake, or Systemic Lupus Erythematosus have also been associated with BP and CDP. 

Images 1-7: 2D and 3D images show normal fetal biometry and flat profile secondary to nasal hypoplasia, commonly known as Binder phenotype.

Images 7-12: skeletal X-ray examination show punctuated calcifications within tarsal and carpal bones and brachytelephalangy (shortened distal phalanges) with no other anomalies.

References

1-TheFetus.net's article by Dr Cuillier F and Dr AlessandrI J-L : https://sonoworld.com/TheFetus/page.aspx?id=3202

2- J. M. Levaillant, D. Moeglin, K. Zouiten, M. Bucourt, L. Burglen, V. Soupre, C. Baumann, M. L. Jaquemont, R. Touraine, A. Picard, E. Vuillard, N. Belarbi, J. F. Oury, A. Verloes, M. P. Vazquez, P. Labrune, A. L. Delezoide, M. Gérard-Blanluet. Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature. (2009) Prenatal Diagnosis. 29 (2): 140. doi:10.1002/pd.2167 - Pubmed

3- Helga V. Toriello, Miriam Erick, Jean-Luc Alessandri, Diana Bailey, Nicola Brunetti-Pierri, Helen Cox, Alan Fryer, Denise Marty, Charles McCurdy, John B. Mulliken, Helen Murphy, Joseph Omlor, Richard M. Pauli, Judith D. Ranells, Amarillis Sanchez-Valle, Ana Tobiasz, Lionel Van Maldergem, Angela E. Lin. Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease. (2013) American Journal of Medical Genetics Part A. 161 (3): 417. doi:10.1002/ajmg.a.35765 - Pubmed

4- Lane, Andrew S., Stallworth, Jennifer L., Eichelberger, Kacey Y., Trofatter, Kenneth F.. Vitamin K Deficiency Embryopathy from Hyperemesis Gravidarum. (2018) Case Reports in Obstetrics and Gynecology. 2015: 324173. doi:10.1155/2015/324173 - Pubmed