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Neonatal epiphyseal stippling

MedGen UID:
867263
•Concept ID:
C4021623
•
Finding
Synonyms: Epiphyseal stippling in neonates; Speckled calcifications in bone end parts in neonates
 
HPO: HP:0005756

Definition

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal epiphyseal stippling

Conditions with this feature

Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
•Concept ID:
C3276228
•
Disease or Syndrome
Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.
See: Condition Record
Acrodysostosis 1 with or without hormone resistance

Professional guidelines

PubMed

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.
Blask AR, Rubio EI, Chapman KA, Lawrence AK, Bulas DI
Pediatr Radiol 2018 Jul;48(7):979-991. Epub 2018 Mar 23 doi: 10.1007/s00247-018-4098-8. PMID: 29572747Free PMC Article

Recent clinical studies

Etiology

Low-dose warfarin maternal anticoagulation and fetal warfarin syndrome.
R Sousa A, Barreira R, Santos E
BMJ Case Rep 2018 Apr 7;2018 doi: 10.1136/bcr-2017-223159. PMID: 29627779Free PMC Article
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. PMID: 25754886
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171
Fetal warfarin syndrome.
Sathienkijkanchai A, Wasant P
J Med Assoc Thai 2005 Nov;88 Suppl 8:S246-50. PMID: 16856447
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Diagnosis

Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report.
Milliken M, Lee J, Cipriano SD
Pediatr Dermatol 2020 Sep;37(5):925-928. Epub 2020 Aug 4 doi: 10.1111/pde.14312. PMID: 32748967
Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.
Guibaud L, Collardeau-Frachon S, Lacalm A, Massoud M, Rossi M, Cordier MP, Vianey-Saban C
J Inherit Metab Dis 2017 Jan;40(1):103-112. Epub 2016 Nov 16 doi: 10.1007/s10545-016-9992-3. PMID: 27853988
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. PMID: 25754886
Lethal epiphyseal stippling in the foetus and neonate; pathological implications.
Wainwright H, Beighton P
Virchows Arch 2010 Mar;456(3):301-8. doi: 10.1007/s00428-009-0877-9. PMID: 20084395
Airway manifestations of chondrodysplasia punctata.
Seguin JH, Baugh RF, McIntee RA
Int J Pediatr Otorhinolaryngol 1993 May;27(1):85-90. doi: 10.1016/0165-5876(93)90040-a. PMID: 8314671

Therapy

Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. PMID: 25754886
Fetotoxicity of warfarin anticoagulation.
Mehndiratta S, Suneja A, Gupta B, Bhatt S
Arch Gynecol Obstet 2010 Sep;282(3):335-7. Epub 2010 Jan 29 doi: 10.1007/s00404-010-1369-5. PMID: 20111969
Fetal warfarin syndrome.
Sathienkijkanchai A, Wasant P
J Med Assoc Thai 2005 Nov;88 Suppl 8:S246-50. PMID: 16856447
Fetal warfarin syndrome.
Hou JW
Chang Gung Med J 2004 Sep;27(9):691-5. PMID: 15605910
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Prognosis

Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata.
Lee JA, Patel KR, Smith AJ, Thompson DM
Laryngoscope 2024 Mar;134(3):1464-1468. Epub 2023 Jul 31 doi: 10.1002/lary.30920. PMID: 37522476
Challenges of spine surgery in patients with chondrodysplasia punctata.
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype.
Demirel G, Oguz SS, Celik IH, Erdeve O, Uras N, Dilmen U
Genet Couns 2012;23(1):25-30. PMID: 22611639
A rare lethal case of chondrodysplasia punctata with extensive airway involvement.
Dewan P, Rai A, Gupta N, Shah D, Faridi MM
Fetal Pediatr Pathol 2012 Jun;31(3):134-9. Epub 2012 Mar 13 doi: 10.3109/15513815.2012.656826. PMID: 22413868
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Clinical prediction guides

Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559
Brachytelephalangic chondrodysplasia punctata in a female child.
Peter MO, Jeandidier E, Maroteaux P
J Pediatr Orthop B 1997 Jan;6(1):24-6. doi: 10.1097/01202412-199701000-00006. PMID: 9039663

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