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Mevalonic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Dysmorphic features were described in all but a few patients [7, 17], but were described as subtle in four [6]. The characteristic picture (Figures 85.6 and 85.7) is of dolichocephaly with frontal bossing, posteriorly rotated low-set ears, antimongoloid slanting of the eyes, a small mouth and jaw, and thin lips. One patient [1] had a small penis and a congenital hydrocele. In this boy, closure of fontanelles and sutures was delayed; by 19 months they were all widely patent. A third fontanelle may be present. Another of our patients had even more delayed closure of sutures, but she was found to have cleidocranial dysplasia and apparently independent mutations in the RUNX2 gene (Figure 85.8).
Abnormal Skull Shape
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
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.
Microdeletion Syndromes
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Gopalrao V. N. Velagaleti, Nancy J. Carpenter
Sotos syndrome (cerebral gigantism) is a pleiotropic syndrome of multiple congenital anomalies, developmental delay, and overgrowth. The syndrome is characterized by macrocephaly, dolichocephaly (prominent forehead), conductive hearing loss, variable mental deficiency, hypotonia, hyper-reflexia, prenatal onset of excessive size, large hands and feet, advanced bone age, down-slanting palpebral fissures, nystagmus, strabismus, high hairline, prominent jaw, high and narrow palate, and psychomotor delay (Fig. 14). Other abnormalities include congenital heart defects such as atrial and ventricular septal defects and patent ductus arteriosus, skeletal malformations including joint laxity, genu valgus, pes planus, disharmonic maturation of phalanges and carpal bones, thin, brittle fingernails, and sparse hair in frontoparietal area (117–122).
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis
Published in Autoimmunity, 2020
Carlos Córdova-Fletes, Martha M. Rangel-Sosa, Lizeth A. Martínez-Jacobo, Luis Eduardo Becerra-Solano, Carmen Araceli Arellano-Valdés, José Alberto Tlacuilo-Parra, Kame Alberto Galán-Huerta, Ana María Rivas-Estilla, Angélica Alejandra Hernandez-Orozco, José Elías García-Ortiz
At 9 years, she had joint swelling over her hands and knees, and uveitis; she was treated with topical steroids. On physical examination she presented with a weight, height, and occipitofrontal circumference of 41 kg (Z score −0.8, percentile 21), 147.7 cm (Z score −1.34, percentile 9) and 53.5 cm (Z score −0.91, percentile 18), respectively; dolichocephaly, wide forehead, mouth with dental crowding, normal thorax, abdomen without visceromegaly, camptodactyly in the 3rd and 4th fingers of the left hand, feet with brachydactyly and small nails, while ankles and elbows showed dry skin with some areas of hyperkeratosis. Currently, she does not exhibit inflammatory events.
Prevalence of temporal bone tegmen defects among patients with Marfan syndrome
Published in Acta Oto-Laryngologica, 2019
Uri Chavkin, Adi Brenner-Ullman, Omer Jacob Ungar, Dan Fliss, Ophir Handzel
MFS manifests variably. Distinctive skeletal characteristics include a long narrow face and skull (dolichocephaly), mandibular prognathism, high arched palate, crowded teeth, prominent supra-orbital ridges, deep-set eyes and frontal bossing. The auricles are often large, low-set, and posteriorly rotated. Ear canals can be narrow and angulated upward and forward. Temporal bone pathologies include changes to the external ear, middle ear ossicles, and vestibular aqueduct [8]. Conductive hearing loss is prevalent, possibly due to ossicular malformation during development, but it may also result from recurrent or chronic otitis media in childhood [9].
Pregnancy in 3M syndrome
Published in Journal of Obstetrics and Gynaecology, 2018
Maria C. Cusimano, David Chitayat, Marie Injeyan, Michael Geary
On physical examination, she had several features consistent with 3M syndrome, including dolichocephaly with a high forehead and frontal bossing, thick eyebrows, short nose with a broad nasal tip, long philtrum, full lips, intact palate, pointed chin, midface hypoplasia, triangular-shaped face, large ears, short broad neck, squared shoulders, 5th finger clinodactyly, and prominent heels. DNA analysis confirmed a homozygous mutation in exon 18 of the CUL7 gene (c.3379-3380delITG) causing a frameshift (Huber et al. 2009). Her husband underwent DNA sequencing of the CUL7 gene which showed no detectable mutation.