Common phenotypic features of brachycephalic patients are an abnormally high ratio of maximal biparietal to fronto-occipital distance, prominent forehead, and flattened occiput. Severe brachycephaly is generally diagnosed at birth, but milder forms of the disease may not manifest until childhood. Although a more harmonious restriction of calvarial growth may not attract attention during infancy, the reduction of a patient's intracranial volume may interfere with development and cognitive function [7]. Thus, mental retardation, visual and hearing impairment as well as other neurological deficits may become apparent during childhood. The causes of cognitive disorders are manifold; vision loss, for instance, has been related to corneal exposure, optic neuropathy, and amblyopia [8].

Of note, additional symptoms are likely to be observed in patients suffering from syndromic brachycephaly. It is beyond the scope of this article to describe the clinical presentation of these entities, and the interested reader is referred to available reviews [5]. The absence of anomalies of hands and feet, in turn, is highly indicative of non-syndromic brachycephaly.

• Trisomy 21

  OBJECTIVE: To investigate the incidence of brachycephaly and frontal lobe hypoplasia in fetuses with trisomy 21 at 11 + 0 to 13 + 6 weeks of gestation. [ncbi.nlm.nih.gov]

  Brachycephaly is frequently a feature in congenital malformation syndromes, including Down syndrome (trisomy 21). [medicinenet.com]

  Pathology Associations Brachycephaly can be associated with numerous syndromes which include: Apert syndrome Carpenter syndrome Cornelia de Lange syndrome cleidocranial dysostosis chromosomal anomalies trisomy 21 3 Larsen syndrome Roberts syndrome Radiographic [radiopaedia.org]

• Short Stature

  Short stature is common and the joints may have limited motion. Dislocation of the radial heads is seen rarely while radioulnar synostosis has been seen in a few individuals. Postnatal short stature is common. Seizures often occur. [disorders.eyes.arizona.edu]

• Failure to Thrive

  Failure to thrive is common. Most patients have seizures of a tonic-clonic or atonic type which may be controlled with medication. Microcephaly, brachycephaly, plagiocephaly, and brachycephaly have been described. [disorders.eyes.arizona.edu]

• Vomiting

  Heat intolerance which happens again due to lack of proper breathing Collapsing due to a shortfall of breath Sleeping with open mouth to compensate for nasal obstruction Continued open-mouth breathing Stridor (high pitched wheezing) Vomiting These symptoms [brachycephalic.com]

• Hearing Impairment

  Thus, mental retardation, visual and hearing impairment as well as other neurological deficits may become apparent during childhood. [symptoma.com]

  Among patients carrying the P250R mutation, females are more severely and more frequently affected than males (female to male ratio of 2:1) and mild hearing impairment is common. [orpha.net]

• Torticollis

  Specialized therapy for cases of moderate to severe brachycephaly and/or torticollis. Varies from an average of 1 to 4 sessions. Torticollis issues may need therapy for a period of months. [carolinakinderdevelopment.com]

  46% percent of babies will have some degree of plagiocephaly and 80% of babies with plagio have torticollis. [dallas.citymomsblog.com]

  An assessment of neck movements also should be made to confirm or rule out the presence of torticollis. Infants with torticollis have some limitation of active rotation of their heads away from the flattened side of the occiput. [pediatrics.aappublications.org]

• Cranial Asymmetry

  The authors conclude that orthotic therapy is a safe and effective therapeutic modality for position cranial asymmetries. [ncbi.nlm.nih.gov]

  Treatment generally takes 3–4 months, but varies depending on the infant’s age and severity of cranial asymmetry. Clinical consultation is available through our staff of ABC certified orthotists. In conjunction with David F. [orthomerica.com]

• Dolichocephaly

  CVA is the difference between 2 diagonal measurements. *** It is important to note that CVA will be symmetric in brachy-, and dolichocephaly. [cappskids.org]

  Compare brachycephaly to dolichocephaly, which is a long head. A normal, medium sized head is known as (an abnormally large head). Brachycephalic and brachycephalous means pertaining to brachycepahly. [medfriendly.com]

  Also known as dolichocephaly, scaphocephaly describes an abnormally tall, narrow head shape. This shape is particularly common in premature babies who have spent time in the neonatal intensive care unit. [cranialtech.com]

  長頭 (Dolichocephaly) 定義 頭長幅指数 76%以下 (客観的) (図 6)。明らかに頭の前後径が横径に比較して増加している状態 (主観的)。 図 6　長　頭 頭蓋骨は前後方向に延長している。右側に舟状頭を示す。舟状頭は長頭の亜型であって,前方方向に船のように尖っているのが特徴である。 [plaza.umin.ac.jp]

  The clinical differentiation of benign positional skull deformity from craniosynostosis is well documented in the literature. 9, –, 11 A long narrow head, known as dolichocephaly, can be positional from breech presentation, familial, or caused by sagittal [pediatrics.aappublications.org]

• Fracture

  Osteogenesis imperfecta is an inherited disorder of the connective tissue characterized primarily by fractures with no or small causal antecedents and extremely variable clinical presentation. [ncbi.nlm.nih.gov]

• Forgetful

  There's no point panicking about something that is commonplace and temporary, so I tried to forget about my concerns. But then I'd see other babies with lovely round heads, and couldn't help but think ''Why doesn't Elliot's head look like that?'' [karens-baby-blog.blogspot.com]

A three-dimensional reconstruction of the patient's skull may be achieved by means of computed tomography or magnetic resonance imaging. Typical results comprise limited growth of the anterior fossa, prominent elliptical orbits commonly referred to as harlequin eyes, and an increased interorbital distance [9]. Bulging of temporal fossae, upper and midface hypoplasia, as well as exorbitism, are common, particularly in patients suffering from syndromic brachycephaly.

Similarly, diagnostic imaging is indicated to identify concomitant pathologies such as the premature closure of additional sutures, and complications of brachycephaly like hydrocephalus. Patients should be subjected to a thorough ophthalmological examination to assess whether they are suffering from increased intracranial pressure and to evaluate vision. An evaluation of the patient's hearing ability may set the grounds for corresponding therapeutic measures. Both conductive hearing loss and sensorineural hearing loss may be present [10]. The patient's stage of mental development should also be determined.

This treatment offers too high levels of satisfaction to parents and brings these children closer to normal indices. [ncbi.nlm.nih.gov]

When checked at the age of two years, there was no significant difference between the two groups, with only about a quarter in each group making a full recovery - 26% who had treatment, 23% who had no treatment. [bbc.co.uk]

The treatment has an average duration of 4 months. It is advisable to treat brachycephaly as early as possible. Learn more at more about the treatment. [plagiocefalia.com]

Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. [ninds.nih.gov]

Primary, single-suture craniosynostosis patients tend to do very well In secondary form, prognosis is dependent on underlying cause Scaphocephaly. [learningradiology.com]

Prognosis The intellectual outcome of patients after cranial expansion surgery is usually good. [orpha.net]

The prognosis is great for those with no congenital/genetic issues and we strive to work in conjunction with your other clinicians. If your child has a skull asymmetry we may be able to help and/or make a proper referral. [mychildwellness.com]

Treatment choice depends on the etiology of the problem and its severity, as well as on the age of the infant. Available options include training for the parents/caregivers, physical therapy, custom head orthosis and surgical intervention. [ncbi.nlm.nih.gov]

Etiology The extent to which nonsyndromic brachycephaly is genetically determined is still uncertain. [orpha.net]

Brachycephaly, in turn, is known to have the same etiology and refers to bilateral occipital flattening (4-8). [scielo.br]

Plagiocephaly and torticollis: etiology, natural history, and helmet treatment. J Pediatr 1981 ; 98 : 92 -5. ↵ Mulliken JB, Vander Woude DL, Hansen M, LaBrie RA, Scott RM. Analysis of posterior plagiocephaly: deformational versus synostotic. [doi.org]

Summary Epidemiology Incidence at birth is in the range of 1/20,000. Clinical description The skull deformity is characterized by a short anteroposterior diameter with a compensatory increase in bitemporal width. [orpha.net]

This may explain a large part of the pathophysiology. [research-projects.uzh.ch]

This study confirms the need for early corrective surgery before 1 year of age in brachycephalic patients to prevent impairment of their mental development. [ncbi.nlm.nih.gov]

There are concerns that parents who are worried about their infants' head shapes may reject SIDS prevention guidelines. [researchspace.auckland.ac.nz]

Preventive Counseling To prevent the deformity, parents should be counseled during the newborn period (by 2 to 4 weeks of age) when the skull is maximally deformable. [pediatrics.aappublications.org]

Brachycephaly refers to skull deformities characterized by an increased ratio of the skull's biparietal to fronto-occipital diameter. This parameter may be designated as the cranial proportional index, and brachycephaly is diagnosed in individuals whose cranial proportional index is above the 95th percentile [1]. Brachycephaly is a type of craniosynostosis [2]. In affected individuals, the premature closure of both coronal sutures impedes the skull to achieve full development in the anterior-posterior plane, while biparietal growth is unaltered or enhanced. However, biparietal growth doesn't usually compensate for brachycephaly and the intracranial volume of an affected individual remains diminished. This may lead to increased intracranial pressure, brain function impairment, developmental delays, and neurological deficits. Early surgery is required to avoid irreversible lesions. Frontoorbital advancement is the technique of choice to perform a frontal reconstruction in brachycephalic individuals [3].

Brachycephaly may be diagnosed in patients suffering from syndromes such as Apert syndrome, Carpenter syndrome, craniofrontonasal syndrome [4], Muenke syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, and Smith-Magenis Syndrome [5] [6], or may constitute a disease without any associated syndromes [7].

1. Feijen M, Franssen B, Vincken N, van der Hulst RR. Prevalence and Consequences of Positional Plagiocephaly and Brachycephaly. J Craniofac Surg. 2015;26(8):e770-773.
2. Khanna PC, Thapa MM, Iyer RS, Prasad SS. Pictorial essay: The many faces of craniosynostosis. Indian J Radiol Imaging. 2011;21(1):49-56.
3. Garza RM, Khosla RK. Nonsyndromic craniosynostosis. Semin Plast Surg. 2012;26(2):53-63.
4. Toral-López J, González-Huerta LM, Messina Baas O, Cuevas-Covarrubias SA. A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype. Mol Syndromol. 2016;7(1):32-36.
5. Panigrahi I. Craniosynostosis genetics: The mystery unfolds. Indian J Hum Genet. 2011;17(2):48-53.
6. Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014;2(3):135-145.
7. Vinchon M, Pellerin P, Baroncini M, Wolber A, Dhellemmes P. Non-syndromic oxycephaly and brachycephaly: a review. Childs Nerv Syst. 2012;28(9):1439-1446.
8. Nischal KK. Visual surveillance in craniosynostoses. Am Orthopt J. 2014;64:24-31.
9. Kim HJ, Roh HG, Lee IW. Craniosynostosis : Updates in Radiologic Diagnosis. J Korean Neurosurg Soc. 2016;59(3):219-226.
10. Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014;78(12):2037-2047.