Genomic coordinate (human 11:44,564,409 ALX4) & (mouse 2:93,472,779 Alx4).
Cytoband (human 11p11.2 ALX4) & (mouse 2qE1 Alx4).
Here I present: “CATLIN MARKS: Foramina Parietalia Permagna“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALX4) icd10=Q75.8
“Catlin marks: foramina parietalia permagna” (FPP) are autosomal dominant, inherited cranial defects characterized by enlarged symmetrical parietal bone openings caused by failed ossification. Often asymptomatic, they may present with headaches, cortical abnormalities, and rarely, neurological risks necessitating cranioplasty.
Foramina Parietalia Permagna (FPP):
Definition & Characteristics: FPP represents abnormally large foramina, usually paired, in the parietal bones, near the sagittal suture. They can range from a few millimeters to several centimeters in diameter.
Origin of “Catlin Marks”: Named by William M. Goldsmith in 1922, the term refers to a family named Catlin, where 16 members across five generations exhibited the condition.
Causes: It is a genetic condition caused by mutations in the ALX4.
Symptoms: While often asymptomatic, potential symptoms include headaches, vomiting, seizures, and intellectual disability.
Treatment: While usually left alone, large defects may require surgical treatment (cranioplasty) to protect the brain from injury in active children.
Diagnosis: Can be identified on prenatal ultrasound or in routine imaging.
Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull.
There is evidence that parietal foramina-2 is caused by mutation in the aristaless homeobox-4 (ALX4) gene encoded on genomic coordinate and cytoband in humans.
- The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna).
