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Non-traumatic skull defects in forensic autopsy: Enlarged parietal foramina
La revue de médecine légale (2016) 7, 119—122
Available online at
ScienceDirect www.sciencedirect.com
CASE REPORT
Non-traumatic skull defects in forensic autopsy: Enlarged parietal foramina ´ fauts osseux non traumatiques en autopsie me ´ dicole ´ gale : De ´ taux ´elargis foramina parie L. Dufayet a,*, J.M. Laborie b, B. Ludes a,b a b
´ Paris-Descartes, Sorbonne-Paris-Cite ´ , 75006 Paris, France Universite ´ dicole ´ gal, 2, place Mazas, 75012 Paris, France Institut me
Available online 15 July 2016
KEYWORDS Enlarged parietal foramina; Parietal foramina; Congenital skull defects; Catlins mark; Forensic autopsy; Identification
MOTS CLÉS Foramina pariétaux élargis ; Foramina parietaux ; Lacunes crâniennes congénitales ; Marques de Catlin ; Autopsie médicolégale ; Identification
Summary The authors report the case of a 10-year-old girl, whose forensic autopsy revealed a rare deformity of the parietal bones: enlarged parietal foramina. Cause of death was determined to be functional sudden death by inhibition following an accidental hanging. There was no evidence of head trauma. As this was a forensic case, the authors have no knowledge of the subject’s medical history. Enlarged parietal foramina were observed first on skull radiographs then during the autopsy. This is a rare, inherited impaired skull development condition. It manifests itself as paired and symmetrical parietal perforations, typically round or oval, with diameters that can range from 5 millimeters to several centimeters. In this case, foramina were nearly round and had a diameter of almost 2 cm. Enlarged parietal foramina, although uncommon, seems to be a necessary knowledge as it could lead to misinterpretations in a forensic case and could help for an identification. # 2016 Elsevier Masson SAS. All rights reserved. Résumé Les auteurs rapportent le cas d’une fillette de 10 ans, dont l’autopsie médicolégale a révélé une déformation rare des os pariétaux : les foramina pariétaux élargis. La cause du décès est une mort subite fonctionnelle par inhibition à la suite d’une pendaison accidentelle. Il n’a pas été retrouvé de signe évoquant un traumatisme crânien. Au vu du statut médicolégal de cette autopsie, les auteurs n’ont pas eu accès aux antécédents médicaux de la patiente. Les foramina pariétaux élargis ont d’abord été mis en évidence sur les radiographies du crâne puis pendant l’autopsie. C’est une rare anomalie génétique de développement de l’os. Cette malformation se manifeste par des lacunes symétriques des os pariétaux, le plus souvent rondes ou ovales, avec un diamètre pouvant varier entre 5 millimètres et quelques centimètres. Ici, les foramina étaient globalement ronds, avec un diamètre de presque 2 cm. Les foramina pariétaux élargis, même s’ils sont rares, doivent être connus des praticiens en médecine légale, car ils posent la
* Corresponding author. E-mail address: [email protected] (L. Dufayet). http://dx.doi.org/10.1016/j.medleg.2016.06.002 1878-6529/# 2016 Elsevier Masson SAS. All rights reserved.
120
L. Dufayet et al. problématique des diagnostics différentiels et des caractères discrets permettant une identification anthropologique. # 2016 Elsevier Masson SAS. Tous droits réservés.
Introduction Anomalies in the parietals bones ossifications, as unossified membranous strip, are often described in forensic literature, as they may mimic skull fractures [1]. We describe here a less known malformation, enlarged parietal foramina. Parietal foramen is an inconstant opening, located close to the intersection of the sagittal and lambdoid sutures on the parietal bone. This anatomical and often asymptomatic characteristic occurs in 60—70% of adults and is bilateral in almost half of the cases [2]. Their diameter is about one millimeter [2]. When parietal foramina are wider, above 5 millimeters for most authors [3], they are called enlarged parietal foramina (EPF). We report the case of a child who died following an accidental hanging. Radiographs of the skull and forensic autopsy lead to the diagnosis of EPF, unrelated to the cause of death. To our knowledge, this is the first report of EPF found in a child in a forensic autopsy. This condition is described in children with neurological symptoms in a few case reports [4].
Case report A 10-year-old caucasian female child was found in respiratory arrest following an accidental hanging. Cardiopulmonary resuscitation was performed by emergency medical
Figure 1
Front skull radiograph, showing two radiolucencies.
service unsuccessfully. We had no knowledge of her medical history. Forensic examination took place the day following her death. Whole body radiographs were performed prior to the autopsy. The front and lateral skull radiographs showed two oval radiolucent areas in the parietal region, on either side of the sagittal suture (Figs. 1 and 2). There was no other radiological finding. There was no palpable skull defect. At autopsy we found pulmonary edema, minor swelling of the brain, and no over internal injuries. On the parietal bones we found two skull defects, described as follow. The dura mater was adherent through the foramina to the epicranial aponeurosis, forming a tough membrane, and there was no vessels passing by (Fig. 3). The left foramen was 1,6 cm in height on 1,3 cm in width and the right foramen was 1,6 cm in height on 1,2 cm in width (Fig. 4). There was no craniofacial dysmorphism, no vascular, meningeal or cortical malformation. There was no other anatomical anomaly. No microscopic examination was performed.
Discussion EPF are also known as fenestrae parietales symmetricae, foramina parietalia permagna, giant parietal foramina or ‘‘Catlin marks’’. One of the oldest descriptions of EPF available in literature was made by Symmers in 1895. He described the autopsic case of a man with « enormous parietal foramina », and underlined the fact that « the father of this man had a similar abnormality of the skull » [5]. After that, EPF made regular appears in the literature but a real
Figure 2
Lateral skull radiograph, showing two radiolucencies.
Non-traumatic skull defects in forensic autopsy: Enlarged parietal foramina
121
Durão et al. [14] described a case where a forensic autopsy was performed for identification purpose and they stress that previous knowledge of EPF would have permitted identification of this 40 year-old man with X-rays alone. It was not the case here, as we were looking for a cause of death, but, if recent radiographies are available, the radiographic superimposition is acceptable for identification. Furthermore, medical examiners should be aware of this malformation, as it could be misinterpreted as a recent head trauma or a recent bullet hole [15], stigmas from a surgery as burr holes or from a ritual trepanation in some cases [16]. Examination of the edges will enable the pathologist to tell the difference as in EPF they are blunted and soft.
Figure 3
A tough membrane was covering the skull defects.
Conclusion EPF are the result of insufficient membranous ossification of the parietals bones. This malformation is rare but a necessary knowledge in forensic medicine. To begin with, it can lead to misinterpretations, as ritual trepanations or violent head trauma. It can also exacerbate a real head trauma and complicate cranial reconstitution. Finally, as it is quite rare, if it’s known prior to death, it can help with identification process.
Disclosure of interest The authors declare that they have no competing interest.
References Figure 4
EPF and sagittal suture.
turn occurred in 1976 with Currarino’s publication about normal variants and congenital anomalies in the region of the obelion. For this author, EPF are caused by a deficient ossification around the parietal notch, which appear at the 8th week of intrauterine life and is normally obliterated by the fifth month during fetal development [2]. As suspected by earliest authors, EPF is now known to be an autosomal dominant anomaly, and mutations in two genes have been described: MSX2 [6,7] et ALX4 [6—8]. Penetrance is high but not full [6]. The prevalence for isolated EPF varies between 1/15 000 and 1/50 000 [9]. They are encountered either in isolation or in a syndromic context as in Potocki-Shaffer syndrome. Clinical expression of EPF is inconstant, and most patients are asymptomatic [9] but some clinical characteristics may exist. Rare cases of scalp defects have been reported [10]. Epilepsy has been described in some cases of EPF, often associated with meningeal, cortical or vascular malformations [6—11]. Pressure applied on EPF can cause, in some cases, headaches, vomiting and intense pain [12]. A risk of skull fracture has been reported in case of direct trauma [13]. This last characteristic is interesting in forensic medicine as a head injury could be aggravated in an EPF case and a cranial reconstruction would be complicated by this malformation, especially if it is not known antemortem.
[1] Saint-Martin P, Rérolle C, Alison D, Lefrancq T. Unossified membranous strip of the parietal bone: a differential diagnosis of non-accidental head trauma in children — a case report. Rev Med Legal 2012;3(1):45—7. [2] Currarino G. Normal variants and congenital anomalies in the region of the obelion. AJR Am J Roentgenol 1976;127(3):487—94. [3] Reddy A, Hedlund G, Percy A. Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology 2000;54(5):1175—8. [4] Chidambaram VA, Hamouda ES. Enlarged parietal foramina presenting as scalp swelling in an infant. Med J Malaysia 2015;70(4):263—4. [5] Symmers W. A skull with enormous parietal foramina. J Anat Physiol 1895;29(2):329—30. [6] Mavrogiannis L, Taylor I, Davies S, Ramos F, Olivares J, Wilkie A. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet 2005;14(2):151—8. [7] Garcia-Miñaur S, Mavrogiannis L, Rannan-Eliya S, Hendry M, Liston W, Porteous M, et al. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet 2003;11(11):892—5. [8] Chung H, Uster-Friedberg T, Pentaz S, Blaser S, Murphy K, Chitayat D. Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol 2010;36(4):521—2. [9] Wilkie AOM, Mavrogiannis LA. Enlarged parietal foramina. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews1. Seattle (WA): University of Washington; 2015 [Internet]https://www-ncbi-nlm-nih-gov-s.frodon.univ-paris5.fr/ books/NBK1128/.
122 [10] Wuyts W. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000;37(12):916—20. [11] Valente K. Epilepsy in one family with parietal foramina: an incidental finding? J Neurol Neurosurg Psychiatr 2004;75(11): 1648—9. [12] Pang D, Lin A. Symptomatic Large Parietal Foramina. Neurosurgery 1982;11(1):33—7. [13] Edwards L, Sachs J, Elster A. Skull fractures through parietal foramina. J Comput Assist Tomogr 2012;36(3):308—9.
L. Dufayet et al. [14] Durão C, Carpinteiro D, Pedrosa F, Machado M, Cunha E. Enlarged parietal foramina: a rare forensic autopsy finding. Int J Legal Med 2016;130(3):855—7. [15] Sauer NJ, Dunlap SS. The asymmetrical remodelling of two neurosurgical burr holes: a case study. J Forensic Sci 1985;30(3): 953—7. [16] Hershkovitz I, Levi B, Hiss J, Arensburg B. Medicoritual trephinations in modern Israel. Am J Forensic Med Pathol 1991;12(3): 194—9.
Available online at
ScienceDirect www.sciencedirect.com
CASE REPORT
Non-traumatic skull defects in forensic autopsy: Enlarged parietal foramina ´ fauts osseux non traumatiques en autopsie me ´ dicole ´ gale : De ´ taux ´elargis foramina parie L. Dufayet a,*, J.M. Laborie b, B. Ludes a,b a b
´ Paris-Descartes, Sorbonne-Paris-Cite ´ , 75006 Paris, France Universite ´ dicole ´ gal, 2, place Mazas, 75012 Paris, France Institut me
Available online 15 July 2016
KEYWORDS Enlarged parietal foramina; Parietal foramina; Congenital skull defects; Catlins mark; Forensic autopsy; Identification
MOTS CLÉS Foramina pariétaux élargis ; Foramina parietaux ; Lacunes crâniennes congénitales ; Marques de Catlin ; Autopsie médicolégale ; Identification
Summary The authors report the case of a 10-year-old girl, whose forensic autopsy revealed a rare deformity of the parietal bones: enlarged parietal foramina. Cause of death was determined to be functional sudden death by inhibition following an accidental hanging. There was no evidence of head trauma. As this was a forensic case, the authors have no knowledge of the subject’s medical history. Enlarged parietal foramina were observed first on skull radiographs then during the autopsy. This is a rare, inherited impaired skull development condition. It manifests itself as paired and symmetrical parietal perforations, typically round or oval, with diameters that can range from 5 millimeters to several centimeters. In this case, foramina were nearly round and had a diameter of almost 2 cm. Enlarged parietal foramina, although uncommon, seems to be a necessary knowledge as it could lead to misinterpretations in a forensic case and could help for an identification. # 2016 Elsevier Masson SAS. All rights reserved. Résumé Les auteurs rapportent le cas d’une fillette de 10 ans, dont l’autopsie médicolégale a révélé une déformation rare des os pariétaux : les foramina pariétaux élargis. La cause du décès est une mort subite fonctionnelle par inhibition à la suite d’une pendaison accidentelle. Il n’a pas été retrouvé de signe évoquant un traumatisme crânien. Au vu du statut médicolégal de cette autopsie, les auteurs n’ont pas eu accès aux antécédents médicaux de la patiente. Les foramina pariétaux élargis ont d’abord été mis en évidence sur les radiographies du crâne puis pendant l’autopsie. C’est une rare anomalie génétique de développement de l’os. Cette malformation se manifeste par des lacunes symétriques des os pariétaux, le plus souvent rondes ou ovales, avec un diamètre pouvant varier entre 5 millimètres et quelques centimètres. Ici, les foramina étaient globalement ronds, avec un diamètre de presque 2 cm. Les foramina pariétaux élargis, même s’ils sont rares, doivent être connus des praticiens en médecine légale, car ils posent la
* Corresponding author. E-mail address: [email protected] (L. Dufayet). http://dx.doi.org/10.1016/j.medleg.2016.06.002 1878-6529/# 2016 Elsevier Masson SAS. All rights reserved.
120
L. Dufayet et al. problématique des diagnostics différentiels et des caractères discrets permettant une identification anthropologique. # 2016 Elsevier Masson SAS. Tous droits réservés.
Introduction Anomalies in the parietals bones ossifications, as unossified membranous strip, are often described in forensic literature, as they may mimic skull fractures [1]. We describe here a less known malformation, enlarged parietal foramina. Parietal foramen is an inconstant opening, located close to the intersection of the sagittal and lambdoid sutures on the parietal bone. This anatomical and often asymptomatic characteristic occurs in 60—70% of adults and is bilateral in almost half of the cases [2]. Their diameter is about one millimeter [2]. When parietal foramina are wider, above 5 millimeters for most authors [3], they are called enlarged parietal foramina (EPF). We report the case of a child who died following an accidental hanging. Radiographs of the skull and forensic autopsy lead to the diagnosis of EPF, unrelated to the cause of death. To our knowledge, this is the first report of EPF found in a child in a forensic autopsy. This condition is described in children with neurological symptoms in a few case reports [4].
Case report A 10-year-old caucasian female child was found in respiratory arrest following an accidental hanging. Cardiopulmonary resuscitation was performed by emergency medical
Figure 1
Front skull radiograph, showing two radiolucencies.
service unsuccessfully. We had no knowledge of her medical history. Forensic examination took place the day following her death. Whole body radiographs were performed prior to the autopsy. The front and lateral skull radiographs showed two oval radiolucent areas in the parietal region, on either side of the sagittal suture (Figs. 1 and 2). There was no other radiological finding. There was no palpable skull defect. At autopsy we found pulmonary edema, minor swelling of the brain, and no over internal injuries. On the parietal bones we found two skull defects, described as follow. The dura mater was adherent through the foramina to the epicranial aponeurosis, forming a tough membrane, and there was no vessels passing by (Fig. 3). The left foramen was 1,6 cm in height on 1,3 cm in width and the right foramen was 1,6 cm in height on 1,2 cm in width (Fig. 4). There was no craniofacial dysmorphism, no vascular, meningeal or cortical malformation. There was no other anatomical anomaly. No microscopic examination was performed.
Discussion EPF are also known as fenestrae parietales symmetricae, foramina parietalia permagna, giant parietal foramina or ‘‘Catlin marks’’. One of the oldest descriptions of EPF available in literature was made by Symmers in 1895. He described the autopsic case of a man with « enormous parietal foramina », and underlined the fact that « the father of this man had a similar abnormality of the skull » [5]. After that, EPF made regular appears in the literature but a real
Figure 2
Lateral skull radiograph, showing two radiolucencies.
Non-traumatic skull defects in forensic autopsy: Enlarged parietal foramina
121
Durão et al. [14] described a case where a forensic autopsy was performed for identification purpose and they stress that previous knowledge of EPF would have permitted identification of this 40 year-old man with X-rays alone. It was not the case here, as we were looking for a cause of death, but, if recent radiographies are available, the radiographic superimposition is acceptable for identification. Furthermore, medical examiners should be aware of this malformation, as it could be misinterpreted as a recent head trauma or a recent bullet hole [15], stigmas from a surgery as burr holes or from a ritual trepanation in some cases [16]. Examination of the edges will enable the pathologist to tell the difference as in EPF they are blunted and soft.
Figure 3
A tough membrane was covering the skull defects.
Conclusion EPF are the result of insufficient membranous ossification of the parietals bones. This malformation is rare but a necessary knowledge in forensic medicine. To begin with, it can lead to misinterpretations, as ritual trepanations or violent head trauma. It can also exacerbate a real head trauma and complicate cranial reconstitution. Finally, as it is quite rare, if it’s known prior to death, it can help with identification process.
Disclosure of interest The authors declare that they have no competing interest.
References Figure 4
EPF and sagittal suture.
turn occurred in 1976 with Currarino’s publication about normal variants and congenital anomalies in the region of the obelion. For this author, EPF are caused by a deficient ossification around the parietal notch, which appear at the 8th week of intrauterine life and is normally obliterated by the fifth month during fetal development [2]. As suspected by earliest authors, EPF is now known to be an autosomal dominant anomaly, and mutations in two genes have been described: MSX2 [6,7] et ALX4 [6—8]. Penetrance is high but not full [6]. The prevalence for isolated EPF varies between 1/15 000 and 1/50 000 [9]. They are encountered either in isolation or in a syndromic context as in Potocki-Shaffer syndrome. Clinical expression of EPF is inconstant, and most patients are asymptomatic [9] but some clinical characteristics may exist. Rare cases of scalp defects have been reported [10]. Epilepsy has been described in some cases of EPF, often associated with meningeal, cortical or vascular malformations [6—11]. Pressure applied on EPF can cause, in some cases, headaches, vomiting and intense pain [12]. A risk of skull fracture has been reported in case of direct trauma [13]. This last characteristic is interesting in forensic medicine as a head injury could be aggravated in an EPF case and a cranial reconstruction would be complicated by this malformation, especially if it is not known antemortem.
[1] Saint-Martin P, Rérolle C, Alison D, Lefrancq T. Unossified membranous strip of the parietal bone: a differential diagnosis of non-accidental head trauma in children — a case report. Rev Med Legal 2012;3(1):45—7. [2] Currarino G. Normal variants and congenital anomalies in the region of the obelion. AJR Am J Roentgenol 1976;127(3):487—94. [3] Reddy A, Hedlund G, Percy A. Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology 2000;54(5):1175—8. [4] Chidambaram VA, Hamouda ES. Enlarged parietal foramina presenting as scalp swelling in an infant. Med J Malaysia 2015;70(4):263—4. [5] Symmers W. A skull with enormous parietal foramina. J Anat Physiol 1895;29(2):329—30. [6] Mavrogiannis L, Taylor I, Davies S, Ramos F, Olivares J, Wilkie A. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet 2005;14(2):151—8. [7] Garcia-Miñaur S, Mavrogiannis L, Rannan-Eliya S, Hendry M, Liston W, Porteous M, et al. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet 2003;11(11):892—5. [8] Chung H, Uster-Friedberg T, Pentaz S, Blaser S, Murphy K, Chitayat D. Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol 2010;36(4):521—2. [9] Wilkie AOM, Mavrogiannis LA. Enlarged parietal foramina. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews1. Seattle (WA): University of Washington; 2015 [Internet]https://www-ncbi-nlm-nih-gov-s.frodon.univ-paris5.fr/ books/NBK1128/.
122 [10] Wuyts W. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000;37(12):916—20. [11] Valente K. Epilepsy in one family with parietal foramina: an incidental finding? J Neurol Neurosurg Psychiatr 2004;75(11): 1648—9. [12] Pang D, Lin A. Symptomatic Large Parietal Foramina. Neurosurgery 1982;11(1):33—7. [13] Edwards L, Sachs J, Elster A. Skull fractures through parietal foramina. J Comput Assist Tomogr 2012;36(3):308—9.
L. Dufayet et al. [14] Durão C, Carpinteiro D, Pedrosa F, Machado M, Cunha E. Enlarged parietal foramina: a rare forensic autopsy finding. Int J Legal Med 2016;130(3):855—7. [15] Sauer NJ, Dunlap SS. The asymmetrical remodelling of two neurosurgical burr holes: a case study. J Forensic Sci 1985;30(3): 953—7. [16] Hershkovitz I, Levi B, Hiss J, Arensburg B. Medicoritual trephinations in modern Israel. Am J Forensic Med Pathol 1991;12(3): 194—9.