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Down's Syndrome
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
Facial features: Note small stature with low set ears.Face is expressionless and the skull small.Eyes are slanted and epicanthal folds are present. The above three will give you a clue as to the diagnosis and you should then focus on examining the patient for Down's syndrome signs. Examine the eyes for a convergent squint and Brushfield's spots (grey/white specks of depigmentation on the periphery of the iris). Lens opacities may be present.Flat bridge of the nose will be apparent.Tongue is rather large, protruding and fissured.
Glutamine synthetase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Patient one had polyhydramnios. Congenital malformations included micromelia. Head circumference at 34 cm was in the 75th to 90th percentile, while length and weight were 3rd to 10th percentile. There were flexion contractures at the elbows and knees camptodactyly, ulnar deviation of the hands, anteverted nostrils and thin lips. Both initial patients had a flat or broad nasal roots and low set ears.
Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The characteristic facies with ptosis and low-set ears, as well as a different cardiac defect from that of Turner syndrome (commonly pulmonary stenosis but also sometimes hypertrophic cardiomyopathy), should allow clinical recognition of this relatively common disorder in either sex. Autosomal dominant inheritance occurs, but the risk to sibs of an isolated case with entirely normal parents is low. Mutations in the gene PTPN11 have been found in about half of those affected. This gene is also involved in the LEOPARD syndrome of lentigines, deafness and pulmonary stenosis. Other genes of the Ras-MAPK pathway can be involved in Noonan syndrome and several disorders caused by mutations in genes in this pathway have overlapping clinical features; they are known collectively as the RASopathies.
Ectopic vortex veins and varices in Donnai Barrow syndrome
Published in Ophthalmic Genetics, 2022
Aisling Higham, Göran Darius Hildebrand, Katharine A. J. Graham-Evans, Rodney D. Gilbert, Rachel Horton, David Hunt, Deborah Shears, Chetan Kantibhai Patel
The male patient was seen aged 9 days. He is the second child born to first cousin parents of Indian origin. The parents’ first child had a congenital diaphragmatic hernia and died within a few hours of birth. The proband was born at 39 + 5 weeks gestation and was diagnosed with a large left congenital diaphragmatic hernia shortly after birth. Bilateral severe sensorineural hearing loss was detected via newborn screening and MRI brain noted a hypoplastic corpus callosum. Dysmorphic features included hypertelorism and low set ears. In view of this pattern of features a clinical diagnosis of DBS was suspected. Whole exome sequencing was undertaken and this identified a homozygous likely pathogenic splice site variant in LRP2, c.6470–2A>C. Both parents were heterozygous carriers. Incidentally, the proband also has an additional diagnosis of autosomal recessively inherited IL11RA-related craniosynostosis, inherited independently from DBS.
Multimodal imaging of ring 14 syndrome associated maculopathy
Published in Ophthalmic Genetics, 2019
Huber M. Vasconcelos, Mauricio E. Vargas, Mark E. Pennesi
An 11-year-old female with refractory epilepsy diagnosed at 3 months of age and she was diagnosed with ring 14 syndrome at 8 months of age. She presented with a history of muscle weakness, mild balance problems and intellectual delay with associated delayed milestones (she started to walk with 1 year and 3 months and to talk with 3 years old). Her seizures are well controlled for the last 6 years using midazolam and phenobarbital. General examination showed short stature with normal head circumference, skin pigmentation and low set ears. In the ophthalmologic visit, she complained of decreased visual acuity and had esotropia, in the left eye. At eye exam, the best corrected visual acuity was 20/20 at both eyes with associated hyperopia (RE: +4.75 + 2.00 x 88; LE: +6.00 + 0.50 x 165). Both corneas were clear and there were no lens opacities. The optic disk was small and crowded, and the macula showed scattered punctiform yellowish lesions (Figure 1a). The punctiform macular dots were bright on red-free fundus photography (Figure 1b). Fundus autofluorescence showed hypoautofluorescence in the central macula with hyperautofluorescence dots in the same area at both eyes (Figure 1c). The SD-OCT showed normal characteristics at both eyes with the exception of localized irregularity of the RPE in an area associated with a macular yellow dots (Figure 2). The kVF showed bilateral mild constriction to all isopters with relatively worse constriction to the I4e and smaller isopters in the right eye. The ffERG showed normal responses in the right eye with significant blink artifacts and inability to obtain recording from the left eye, do to patient poor tolerance of testing. Multifocal ERG (mfERG) showed technical artifact due to poor tolerance of contact lens and unstable fixation.
A new phenomenon of cochlear otosclerosis: an acquired or congenital disease? – A clinical report of cochlear otosclerosis
Published in Acta Oto-Laryngologica, 2021
Simeng Lu, Xingmei Wei, Biao Chen, Jingyuan Chen, Lifang Zhang, Mengge Yang, Zhiming Sun, Ying Shi, Ying Kong, Sha Liu, Yongxin Li
The infant was found to have bilateral hearing loss at birth. He failed to pass the newborn hearing screening and two sequencing tests. He could only say syllables like ‘a’ and was never fitted with a hearing aid. Physical examination demonstrated growth retardation and developmental delay. He could not sit alone during the examination. The child had orbital hypertelorism, a wide nasal bridge, short neck and talipes varus. He had low-set ears and a preauricular fistula on the left ear. No abnormalities were found in the tympanic membrane.