Craniosynostosis: A Case of Brachycephaly and Suspected Crouzon Syndrome in a Newborn

Contributed by Dr. Ghulam Nabi, MD, Pediatric Consultant and Neonatologist at Bugshan Hospital, Jeddah, Saudi Arabia (drgnabi2@gmail.com).

Case Report

A full-term female baby, born normally by vaginal delivery, was brought to our clinic for assessment .

Her Apgar scored 8 and 9 at 1 & 5 minutes. Routine resuscitation of the baby done, and and vital signs were stable. Weight:: 3.1 kilograms; length: 50 centimeters (Cm), head circumference: 30 cm.

Mother is a 33-year-old Yemini national. antenatal period is uneventful. The other five siblings are normal. The baby was admitted to the nursery for dysmorphic features. shape of the skull was abnormal. Anterior and posterior fontanel closed. Exophthalmos, hypertelorism, prominent forehead. Low-set ears (Figure 1).

Clinically,, other systems were normal.

Blood group and Rh.mother A+, Baby 0+.

Oral feeding started two hours after birth; her sucking was normal; passing urine, stool was normal.

X ray skull closure of both coronal sutures (Craniosynostosis). Sagittal and lambdoid sutures are normal. Abnormal convolutional markings throughout the copper beaten skull. Multislice non contrast axial Computerized tomography of the brain with coronal and sagittal reformet. Early closure of bilateral coronal and lambdoid sutures is noted (craniosynostosis), resulting in an abnormal shape of the skull called brachycephaly.

Shallow orbital cavities with protrusion of eye globes (exophthalmos) suspected Crouzon syndrome. Convolutional markings are seen throughout the skull vault, the so-called copper-beaten skull (Figure 2). No hydrocephalus, no evidence of cerebellar tonsil herniation, no brain atrophy. Abdominal pelvic ultrasound is normal. Routine blood tests are normal.

Echocardiography was done with the small patent ductus arteriosus closed without treatment. She was discharged in stable condition and advised to consult a neurosurgeon and attend an outpatient clinic for follow-up.

Discussion

Originally described in 1912 by Crouzon, it is an autosomal dominant genetic disorder known as a branchial arch syndrome.

Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.

Breaking down the name, “craniofacial” refers to the skull and face, and “dysostosis” refers to the malformation of bone.

Now known as Crouzon syndrome, the characteristics can be described by the rudimentary meanings of its former name. What occurs is that an infant’s skull and facial bones, while in development, fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures leads to different patterns of growth in the skull.

A multi-disciplinary treatment approach would provide the best outcomes for affected patients. Patients with Crouzon syndrome need long-term management by experts in various specialties. Facial and functional malformations in individuals with Crouzon syndrome could be significantly improved after a series of surgical and orthodontic procedures in almost all cases. According to the aforementioned protocols, the surgical treatment of craniofacial hypoplasia is obligatory. However, the role of the orthodontist is crucial both before and after surgery to reach the desired treatment plan goals. Facial and functional malformations in individuals with Crouzon syndrome could be significantly improved after a series of surgical and orthodontic procedures in almost all cases.

Crouzon syndrome is rare worldwide. It is currently estimated to occur in 1 in 25,000 people in the general population.

References

1. Crouzon O. Dysostose cranio-facial hereditaire. Bull Mem Soc Med Hop (Paris) 33, 545, 1912.
2. Stephen L., Kinsman and Michael V. Johnston. Crouzon syndrome. Nelson Textbook of Pediatrics, 21st edition, vol. 2, 2020. Elsevier, Philadelphia, USA. Page 3081.
3. Kyprianou R., Chatzigianni A. Crouzon Syndrome: a Comprehensive Review. Balk J Dent Med, 2018; 1-6.
4. Helman SN, Badhey A, Kadakia S, Myers E. Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. Oral Maxillofac Surg. 2014, Sep 24. [Medline]
5. Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, et al. Apparently, synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. BMC Med Genet. 2014 Aug 31. 15:95.