Rare & Orphan Lab · DeCure for X
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for parietal foramina — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
No approved-drug candidate for parietal foramina is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
ALX homeobox 4 (ALX4) — ALX4 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
RCSB Protein Data Bank · entry 9D9R · 2.389 Å · ligand none (apo structure). Experimental structure, not a prediction.
Parietal foramina occur in most skulls, but on rare occasion evolve into giant defects. In one family all siblings were affected, and the trait appeared to be inherited as a Mendelian dominant, possibly more noticeable in infancy than in adult life. The condition affects approximately 1 in 25,000 people, is thought to be inherited as an autosomal trait, and may be associated with other skeletal anomalies such as cleft lip or palate. One 1946 case report described an American Negro female, 33 years old, with large parietal foramina present since birth; similar defects reportedly occurred in her maternal grandmother, a male cousin on the mother's side, and two sisters aged 24 and 32, while a brother and her daughter had normal skulls.
The majority of enlarged parietal foramina are usually completely asymptomatic. However, a 1982 study of a mother and her two children with large parietal foramina, studied with plain roentgenograms and computed tomography, found that the children had recurrent bouts of unexplained headaches and vomiting. Gentle pressure over the defects and combing of the overlying hair produced local pain and violent headaches in all three patients. A 2023 case report notes that affected children may present with severe headache, vomiting, or predisposition for epilepsy, but states the prognosis is mostly benign. A 1946 case also reported a patient with osteoporosis circumscripta producing defects that simulated enlarged parietal foramina, with three skull defects rather than the two usually seen in enlarged parietal foramina.
The roentgenologic recognition of enlarged parietal foramina is not difficult, and radiologists are generally familiar with the appearance of such defects in the upper posterior angle of the parietal bones. However, a similar picture may be obtained in other diseases of bone, such as osteoporosis circumscripta. The mother's comments in the 1982 study suggested that the bilateral defects in the children evolved from a single midline opening via median ossification.
What is still missing are prospective studies that systematically document the proportion of patients who become symptomatic, the natural history of the defects from infancy to adulthood, and any reliable predictors of headache or epilepsy. No randomised trial or controlled treatment data exist for symptomatic cases, and no stratification by defect size or family history has been attempted. The evidence base remains limited to small case series and single-family reports.
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Abstract✓ Parietal foramina normally occur in most skulls but on rare occasion evolve into “giant” defects. A family, all of whose siblings were so affected, is analyzed. The trait appears to be inherited as a Mendelian dominant, and may be more noticeable in infancy than in adult life. The problems related to giant parietal foramina are discussed.
https://doi.org/10.3171/jns.1972.37.4.0487AbstractA mother and her two children with large parietal foramina were studied with plain roentgenograms and computed tomography. The mother's comments convinced us that the bilateral defects in the children evolved from a single midline opening via median ossification. The children had recurrent bouts of unexplained headaches and vomiting. Gentle pressure over the defects and combining of the overlying hair produced local pain and violent headaches in all three patients. These characteristic symptoms as well as other clinical problems associated with this anomaly are discussed.
https://doi.org/10.1227/00006123-198207010-00007AbstractParietal foramina (Catlin marks) are developmental anomalies which affect approximately 1 in 25,000 people. They are thought to be inherited as an autosomal trait and may be associated with other skeletal anomalies such as cleft lip or palate. The majority of enlarged parietal foramina are usually completely asymptomatic.
https://doi.org/10.1046/j.1365-263x.1998.00085.xAbstractThe roentgenologic recognition of enlarged parietal foramina is not difficult. While these are not a common finding, radiologists generally are familiar with the appearance of such defects in the upper posterior angle of the parietal bones. A similar picture may, however, be obtained in other diseases of bone, one of which is osteoporosis circumscripta. Of the two cases recorded below, one showed enlarged parietal foramina, with a history suggestive of an inherited character; the other is a case of osteoporosis circumscripta producing defects simulating enlarged parietal foramina. The typical x-ray findings in the two conditions, with adequate reviews of the literature, are fully covered in articles by Kasabach and Gutman (1) on osteoporosis circumscripta, and by Pepper and Pendergrass (2) on enlarged parietal foramina. The reader is referred to these comprehensive treatises for such additional information as he may desire. Case Reports Case I: S. G. is an American Negro female, 33 years old, married and the mother of a daughter 18 years old. The patient was first seen in the Medical Clinic of Freedmen's Hospital in February 1944 with a multinodular fibroid tumor of the uterus, which was successfully removed. In her case history she called attention to “soft spots” in her skull, present since birth. Other members of her family were said to have similar defects regarded by them as a family secret. Indeed, the patient was admonished by some of her relatives for betraying their secret and submitting to an x-ray examination of the skull. Large parietal foramina were well seen on the films (Fig. 1). According to the history similar defects of the skull occurred in the patient's maternal grandmother, a male cousin on the mother's side, and in two sisters, aged 24 and 32 years. A brother, 20 years old, did not have these defects. The patient's daughter had a normal skull. Since most of the members of her family did not live in the District of Columbia, they could not be seen for questioning. Case II: O. B., an American Negro female, age 45, unmarried, came to the Surgical Clinic of Freedmen's Hospital in November 1941, complaining of pain along the margins of her upper gums, radiating backward and of approximately a year's duration. She had been advised to have her upper teeth removed, and this was done six months prior to her visit to our clinic, without relief of pain. The patient was then referred to the x-ray department with the clinical impression of a calculus in a salivary duct, but none was found on roentgen examination. Routine films of the skull disclosed osteoporosis circumscripta. An unusual finding was rounded symmetrical shadows located at the upper angle of the parietal bone on either side of the cranium. These shadows were sharply defined and resembled enlarged parietal foramina (Figs. 2 and 3). The skull defects were three in number, against two usually seen in enlarged parietal foramina.
https://doi.org/10.1148/46.6.601AbstractA mother and her two children with large parietal foramina were studied with plain roentgenograms and computed tomography. The mother's comments convinced us that the bilateral defects in the children evolved from a single midline opening via median ossification. The children had recurrent bouts of unexplained headaches and vomiting. Gentle pressure over the defects and combing of the overlying hair produced local pain and violent headaches in all three patients. These characteristic symptoms as well as other clinical problems associated with this anomaly are discussed. (Neurosurgery 11:33-37, 1982)
https://doi.org/10.1097/00006123-198207010-00007AbstractEnlarged parietal foramina is a rare entity that results from late or incomplete ossification, ending as large foramina in the parietal bone. Usually, affected children are asymptomatic but may present with severe headache, vomiting or predisposition for epilepsy. This case aims to raise awareness of a rare clinical entity that can be manifested by a persistently opened posterior fontanelle. The prognosis is mostly benign.
https://doi.org/10.24875/pjp.m23000051Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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