Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped anophthalmia , or they may be abnormally small microphthalmia. Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures coloboma.
Other frequent malformations include fingers or toes that are fused together syndactyly or extra fingers or toes polydactyly. These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body.
Additional skeletal abnormalities involving the long bones of the arms and legs or the spinal bones vertebrae can also occur. Affected individuals may have distinctive facial features, an opening in the lip cleft lip with or without an opening in the roof of the mouth cleft palate , or intellectual disability. FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum.
XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MEDrelated disorders. Cardiofaciocutaneous CFC syndrome is characterized by cardiac abnormalities pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances , distinctive craniofacial appearance, and cutaneous abnormalities including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis.
The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals. Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure summary by Lee-Barber et al.
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies.
Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype.
Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes summary by Ostergaard et al. Robitaille et al. Birtel et al. Variable expressivity and reduced penetrance have also been observed in some families Jones et al. Autosomal recessive forms of microcephaly with chorioretinopathy have been reported see See also Mirhosseini-Holmes-Walton syndrome autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; , which has been mapped to chromosome 8q Congenital melanocytic nevus syndrome is characterized by pigmentary skin defects apparent at birth.
These lesions may or may not be hairy. Smaller 'satellite' pigmented lesions numbering in the hundreds may also be present all over the body. A small subset of patients with CMNS have abnormalities of the central nervous system, known as 'neurocutaneous melanosis' or 'neuromelanosis' , which may be symptomatic.
Patients with CMNS also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip summary by Kinsler et al.
Spitz nevi are benign melanocytic melanomas composed of epithelioid or spindle cell melanocytes. They usually present as solitary skin tumors but can occur in multiple patterns, having agminated, dermatomal, and disseminated forms summary by Sarin et al. Nevus spilus, also known as speckled lentiginous nevus, is a congenital hyperpigmented patch that progressively evolves, with affected individuals developing dark macules and papules during childhood and adolescence.
Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanomas summary by Sarin et al.
Simpson-Golabi-Behmel syndrome type 2 SGBS2 is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly summary by Budny et al. For a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification summary by Khosroshahi et al.
The Rank 1 picture portrays a deeply grooved philtrum and very thick upper lip. As you advance up the Guide from Rank 1 to 5, the upper lip becomes thinner and the philtrum becomes smoother. The Lip-Philtrum Guide reflects the full range or normal distribution of lip thickness and philtrum depth one would see in a general population.
The Rank 3 picture reflects the population mean or 50th percentile. The digital image format of Lip-Philtrum Guides 1 and 2 are displayed below. The frontal photos are used to rank lip thinness. These digital images are intended to be loaded on a smartphone or computer tablet; devices that are small enough to hold next to the patient's face when you measure their features. Please do not print these digital images. Printing will invalidate the digital Lip-Philtrum Guides.
If you print the digital guides, we cannot assure your printer will provide the required image quality to ensure the tool's validity.
For example, there are very subtle differences between the Rank 4 and Rank 5 philtrums. Binstock Dr. Philtrum Columns Sculpted philtrum columns are in style.
Vermillion Border Precise injection technique is critical if this area is to be treated properly. Oral Commissures Proper injection technique here creates a natural looking pout. Nasolabial Creases Filling the nasolabial creases makes the upper lip turn outward for a natural looking pout. Follow Us:. Jeffrey H. Binstock, MD is a Fellow of:. So, okay, now I have one for real.
My friends who have life-threatening cancers have changed how they look, wearing wigs over bald heads or loose shirts over absent breasts. My kind of cancer is rarely fatal; it's merely lip-shifting. Still, mine is in the middle of the most public part of my body. These days, to protect the rest of my face against the sun, I wear a hat so wide-brimmed that it serves as an umbrella in the rain.
I slather on enough zinc oxide to make my nose resemble a snow-capped ledge. And even on the hottest summer days, I wear pajama-like pants that make me look like someone who forgot to get dressed.
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