Minor and Moderate Anomalies Recognize minor and moderate ...
Minor and Moderate Anomalies Recognize minor and moderate anomalies and consider chromosome analysis if a child has 2 or more. Pay particular attention to observations of abnormalities in head, face, skin, and extremities. Head micrognathia Face Short philtrum Smooth philtrum Long philtrum Mid-face hypoplasia Low-set ears Facial asymmetry Frontal bossing Coarse facies
Nose Broad nose Low nasal bridge Prominent nose Hands Arachnodactyly Polydactyly Broad toe or thumb Syndactyly Clenched hand Clinodactyly Brachydactyly Transverse crease Infant cry Hoarse or weak Catlike, mewing Low-pitched or growling Other Single umbilical artery hernia
Eyes Nystagmus Ptosis Infant cataract Cherry red spot on macula Aniridia Blue sclera Glaucoma Retinal detachment Hypertelorism Up -slanting palpebral fissures
Down-slanting palpebral fissures Short palpebral fissures Epicanthal folds Coloboma Juvenile arcus corneae synophrys photophobia Arms/Legs Joint hyperextensibillity Asymmetry Skin Xanthomas Café au lait spots Photosensitivity Hyperelasticity or looseness Leaf-shaped, white macules Telangiectasia Port-wine stains Marble swirl markings Nail hypoplasia Adapted from Lashley, F. R. (2007). Essentials of Clinical Genetics in Nursing Practice. New York, N.Y.: Springer Publishing Co.
Teeth Exceptionally large Conical Supernumerary Red or purple Opalescent Oligodontia Mouth Macroglossia Lip pits Smooth tongue Lip pigmentation
Trunk Broad (shield) chest Pectus excavatum Hair Hirsutism
Widow’s peak Sparse hair White streak in hair White hair Low hairline Stubbly, coarse hair
Genitalia Micropenis Enlarged clitoris Pigmented Labia majora hypoplasia Bifid scrotum Cryptorchidism Macro-orchidism
Nose Broad nose Low nasal bridge Prominent nose Hands Arachnodactyly Polydactyly Broad toe or thumb Syndactyly Clenched hand Clinodactyly Brachydactyly Transverse crease Infant cry Hoarse or weak Catlike, mewing Low-pitched or growling Other Single umbilical artery hernia
Eyes Nystagmus Ptosis Infant cataract Cherry red spot on macula Aniridia Blue sclera Glaucoma Retinal detachment Hypertelorism Up -slanting palpebral fissures
Down-slanting palpebral fissures Short palpebral fissures Epicanthal folds Coloboma Juvenile arcus corneae synophrys photophobia Arms/Legs Joint hyperextensibillity Asymmetry Skin Xanthomas Café au lait spots Photosensitivity Hyperelasticity or looseness Leaf-shaped, white macules Telangiectasia Port-wine stains Marble swirl markings Nail hypoplasia Adapted from Lashley, F. R. (2007). Essentials of Clinical Genetics in Nursing Practice. New York, N.Y.: Springer Publishing Co.
Teeth Exceptionally large Conical Supernumerary Red or purple Opalescent Oligodontia Mouth Macroglossia Lip pits Smooth tongue Lip pigmentation
Trunk Broad (shield) chest Pectus excavatum Hair Hirsutism
Widow’s peak Sparse hair White streak in hair White hair Low hairline Stubbly, coarse hair
Genitalia Micropenis Enlarged clitoris Pigmented Labia majora hypoplasia Bifid scrotum Cryptorchidism Macro-orchidism
