Abnormal Skull Shape
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan in Problem-Based Obstetric Ultrasound, 2019
Brachycephaly and dolichocephaly occur when the head is more rounded or elongated, respectively. This is most commonly a normal variant: In brachycephaly the head appears shorter and wider. This is most often due to normal variation but has also been associated with trisomy 21. Premature fusion of the coronal sutures can also be a cause; this is seen in Pfeiffer syndrome, where wide-set eyes, brachydactyly or syndactyly may also coexist.Dolichocephaly is frequently associated with pressure effects due to a fetal breech presentation or reduced amniotic fluid. In late gestation it can be due to premature fusion of the sagittal suture.
Craniofacial Surgery
John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed in Paediatrics, The Ear, Skull Base, 2018
Described in 1906 by Apert, this syndrome has an incidence of 1: 60 000 live births. Apert syndrome is caused by mutations in FGFR2; two-thirds of cases have the mutation Ser252Trp while the remaining one-third have the Pro253Arg mutation.36 There is an autosomal dominant pattern of inheritance although most cases of Apert syndrome occur without a family history as a result of new mutations and there is a link with advanced paternal age.37 The main features of this condition include craniosynostosis (usually bicoronal), abnormal midfacial development and fusion of the digits of the hands and feet (syndactyly) (Figure 19.6). Abnormalities of the midface and cranium are evident at birth, with brachycephaly and midface retrusion causing an anterior open bite (malocclusion). Cleft soft palate or bifid uvula is present in 30% of cases. Fixation of the stapes footplate may cause a conductive hearing loss. There may be other associated malformations and intellectual ability may vary from normal to significantly impaired.38
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow in Fetal and Perinatal Skeletal Dysplasias, 2012
Radiographic features: there is turricephaly and brachycephaly. The mandible appears large with an obtuse angle. The long bones are mildly short with cupped, sclerotic, spurred and irregular metaphyses. There is some relative elongation of the proximal fibulae. There is delayed ossification of the epiphyses at the knees and irregular ossification of the tarsal bones with apparently several ossification centres of the calcanea. The tubular bones of the hands and feet are extremely short with cupped metaphyses. The mildly short, slender ribs show posterior cupping giving a V shape and the thorax is narrow. The scapulae have squared and spurred inferior angles and the acromia appear long. There is generalised platyspondyly. The ilia are short and wide with wide sacroiliac notches, prominent anteriorsuperior iliac spines and the iliac crests have a lace-like appearance with grooves best seen medially. The acetabula are horizontal with small medial and lateral spurs.
Secular trends in cranial size and shape among black South Africans over the late 19th and 20th centuries
Published in Annals of Human Biology, 2020
Frederick E. Grine, Christine Lee, Carrie S. Mongle, Brendon K. Billings, Ian J. Wallace, Victor Mngomezulu
Secular increases in the degree of brachycephaly (i.e. a relative increase in cranial breadth) over the 20th century have been documented in several populations (Kouchi 2000; Hossain et al. 2005; Little et al. 2006; Saini 2014), while decreases in brachcephaly (i.e. a relative decrease in cranial breadth) have been recorded in others (Facchini and Gualdi-Russo 1982; Susanne et al. 1988; Gyenis et al. 2003; Buretić-Tomljanović et al. 2004; Janz and Janz 2016; Cridlin 2018).
Related Knowledge Centers
- Craniosynostosis
- Down Syndrome
- Parietal Bone
- Frontal Bone
- Dolichocephaly
- Plagiocephaly
- Sids
- Tummy Time
- Achard Syndrome
- Achondrogenesis Type 2