We present a case of a 5-year-old boy who presented with a 15 4.5 cm midline posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose. [ncbi.nlm.nih.gov]

• Recurrent Respiratory Infections

  These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. [ncbi.nlm.nih.gov]

• Normal Hearing

  Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. [ncbi.nlm.nih.gov]

• Alopecia

  […] failure Bulbous nose Metabolic acidosis Delayed myelination Aciduria Infantile muscular hypotonia Tented upper lip vermilion Strabismus Dystonia Cryptorchidism Intrauterine growth retardation Abnormality of the dentition Intellectual disability, mild Alopecia [mendelian.co]

• Hirsutism

  […] palpebral fissure Horizontal nystagmus Retinal coloboma Syndactyly Carcinoma Craniosynostosis Blepharophimosis Finger syndactyly Facial asymmetry Polymicrogyria Bullet-shaped distal phalanx of the hallux Abnormality of the skin Broad thumb Generalized hirsutism [mendelian.co]

• Epileptiform Activity

  EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. CONCLUSION: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. [ncbi.nlm.nih.gov]

The standard treatment for cranium bifidum occultum is observation. [ncbi.nlm.nih.gov]

Definite treatment of hypertelorism (OR.H.) by craniofacial or by extracranial osteotomies. Scand J Plast Reconstr Surg 7: 39-58, 1973 van der Meulen, JC. The pursuit of symmetry in cranio-facial surgery. [en.wikipedia.org]

However, a nasal bone graft has a good prognosis, even when performed in children. [ncbi.nlm.nih.gov]

Prognosis The prognosis varies depending on severity which can vary considerably among affected patients. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis: Isolated: generally good but in severe cases the cosmetic implications are important. There might be impaired stereoscopic binocular vision. Syndromic: generally poor with high risk of neurodevelopmental delay. [fetalmedicine.org]

Prognosis depends on severity of associated anomalies and/or if a syndrome is present. DNA analysis is available for a number of the single-gene disorders associated with hypertelorism. [obgyn.mhmedical.com]

An analysis of the etiology, surgical method, and complication has been undertaken. RESULTS: The main cause of orbital hypertelorism in our center was craniofacial cleft. [ncbi.nlm.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Summary Epidemiology It has been described in three families. [orpha.net]

Infections and leaks can be prevented by giving perioperative antibiotics and identifying and closing of any dural tears. The risk of significant bleeding can be prevented by meticulous technique and blood loss is compensated by transfusions. [en.wikipedia.org]

The inverted U-shaped osteotomy technique may be an effective and safe technique for the stability of the corrected orbital framework and the prevention of recurrence in severe cases of orbital hypertelorism. [ncbi.nlm.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]