China
Africa
Explore chapters and articles related to this topic
Empty Renal Fossa
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
Bilateral renal agenesis is usually a diagnosis of exclusion, with the presentation being that of severe oligohydramnios or anhydramnios in the second trimester. The renal fossae are hard to image due to the lack of liquor. Additionally, the suprarenal glands occupy the renal fossae when the kidneys are not formed. These can mimic normal renal tissue on scan, thus making the diagnosis complicated. The lack of a normally filled bladder and renal arteries in the setting of anhydramnios would be features in favor of bilateral renal agenesis. The search for additional anomalies can be very challenging primarily due to the lack of liquor. In the majority of cases, the suspicion is usually only confirmed post-mortem, when associated abnormalities are also identified. The presence of cryptophthalmos and syndactyly would suggest the diagnosis of Fraser syndrome. Presence of vertebral, limb, esophageal, or cardiac abnormalities would raise the suspicion of VATER or VACTERL associations.
The eye
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Microphthalmos and anophthalmos constitute an extremely heterogeneous group. Unilateral cases are frequently non-genetic but cannot be securely distinguished from genetic forms. Rubella, toxoplasmosis, maternal thalidomide and other drug exposures are possible causes of bilateral disease. Mental retardation is frequently associated, and microphthalmos is a feature of several chromosomal defects as well as Mendelian syndromes. The X-linked Lenz syndrome of microphthalmos with cataract, mental retardation and digital and genitourinary abnormalities must be considered. Microphthalmos with coloboma is usually autosomal dominant (in the absence of known external causes) and is heterogeneous. Complete bilateral anophthalmia can be difficult to distinguish from extreme microphthalmos and may result from environmental factors. Cryptophthalmos, with absent palpebral fissures, may be part of the previously mentioned disorders, or may occur with relatively normal eye development, usually following autosomal recessive inheritance. Some cases are part of the more general Fraser syndrome (autosomal recessive), where renal agenesis and laryngeal atresia may be major features, and where a specific developmental gene defect is known.
Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population
Published in Orbit, 2020
Dalal Al Essa, Rajiv Khandekar, Alicia Galindo-Ferreiro, Deepak P. Edward, Azza Maktabi, Hailah Al Hussein, Osama Al Sheikh, Diego Strianese, Silvana A. Schellini
The 15 unilateral (55.6%) and 12 bilateral (44.4%) cases had similar clinical features. The majority of patients presented with isolated CEC (17 patients; 62.9%), and 10 patients (37.1%) presented with CEC associated with systemic or craniofacial defects. The associated syndromes included Goldenhar syndrome (5 patients; 50%), and Treacher-Collins syndrome (1 patient; 10%) (Table 3). Abnormal developmental milestones were noted in 4 patients (14.8%). Cryptophthalmos (total closure) was observed in 3 patients (11.1%; see Table 3). The most common ocular abnormalities related to CEC were corneal adhesion (18 eyes; 46.2%) and poorly formed eyebrows (21 eyebrows; 53.8%). The medial aspect of the upper lid was the most common location (56.4%). Twenty-seven (69.2%) lids had full thickness involvement (Table 3; Figure 1).
Oral mucosa grafting in periorbital reconstruction
Published in Orbit, 2018
Lower eyelid reconstruction using buccal mucosa was first described by van der Meulen in 1982.43 Whitehouse and Francis44 used a myocutaneous monopedicle rotational flap from the ipsilateral upper eyelid over a free buccal OMG to reconstruct large lower eyelid defects as a one-stage procedure. All but one of the 15 patients had good eyelid function and cosmetic results. On the other hand, Sakai45 repaired eyelid margin defects following tumour resection using a composite skin-muscle-mucosa graft from the lower lip as a simple one-stage procedure in elderly patients. OMGs may also be used to lengthen the anterior lamella and correct cicatricial ectropion in patients with severe skin disorders such as congenital icthyosis. The oral mucosa is not affected by the disease and once transplanted into the eyelid undergoes metaplasia into keratinized skin.46,47 Repair of congenital eyelid defects such as cryptophthalmos has been achieved using an OMG too.48