References

The following references are available:

Primary Source References

• Allanson, J.E., Biesecker, L.G., Carey, J.C., Hennekam, R.C. 2009. Elements of morphology: Introduction. Am J Med Genet Part A 149A: 2-5. [PubMed]
• Allanson J.E., Cunniff C., Hoyme H.E., McGaughran J., Muenke M., Neri G. 2009b. Elements of morphology: Standard terminology for the head and face. Am J Med Genet Part A 149A: 6-28. [PubMed]
• Biesecker, L.G., Aase, J.M., Clericuzio, C., Gurrieri, F., Temple, K., Toriello, H. 2009. Elements of morphology: Standard terminology for the hands and feet. Am J Med Genet Part A 149A: 93-127. [PubMed]
• Carey, J.C., Cohen, M.M. Jr., Curry, C., Devriendt, K., Holmes, L., Verloes, A. 2009. Elements of morphology: Standard terminology for the lips, mouth, and oral region. Am J Med Genet Part A 149A: 77-92. [PubMed]
• Hall, B.D., Graham, J.M. Jr., Cassidy, S.B., Opitz, J.M. 2009. Elements of morphology: Standard terminology for the periorbital region. Am J Med Genet Part A 149A: 29-39. [PubMed]
• Hennekam, R.C., Cormier-Daire, V., Hall, J., Méhes, K., Patton, M., Stevenson, R. 2009. Elements of morphology: Standard terminology for the nose and philtrum. Am J Med Genet Part A 149A: 61-76. [PubMed]
• Hunter, A.G.W., Frias, F., Gillessen-Kaesbach, G., Hughes, H.E., Jones, K.L., Wilson, L. 2009. Elements of morphology: Standard terminology for the ear. Am J Med Genet Part A 149A: 40-60. [PubMed]

Head and Face

• Allanson J.E., Cunniff C., Hoyme H.E., McGaughran J., Muenke M., Neri G. 2009b. Elements of morphology: Standard terminology for the head and face. Am J Med Genet Part A 149A: 6-28. [PubMed]
• Farkas, L.G. 2009. Anthropometry of the head and face in medicine. New York: Elsevier. [PubMed]
• Hall, J.G., Allanson, J.E., Gripp, K., Slavotinek, A. 2009. Handbook of normal physical measurements. 2nd edition. New York: Oxford University Press.

Periorbital Region

• Ahmad W., Irvine A.D., Lam H., Buckley C., Bingham E.A., Panteleyev A.A., Ahmad M., McGrath J.A., Christiano A.M. 1998. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 63: 984-991. [PubMed]
• Cheng K.P., Biglan A.W. 2002. Ophthalmology Ch19 649-692. In Atlas of pediatric physical diagnosis. Zitelli BJ and Davis HW , Editors. 4th Ed. Mosby, St. Louis.
• Cohen M.M., Richieri-Costa A., Guion-Almeida M.L., Saavedra D. 1995. Hypertelorism: Interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg 24: 387-395. [PubMed]
• Cunniff C., Curtis M., Hassed S.J., Hoyme H.E. 1998. Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet 75: 52-54. [PubMed]
• Evereklioglu C., Yakinci C., Er H., Doganay S., Durmaz Y. 2001. Normative values of craniofacial measurements in idiopathic benign macrocephalic children. Cleft Palate Craniofac J 38: 260-263. [PubMed]
• Farkas L.G. 1994. Anthropometry of the head and face. New York: Raven Press. p 405.
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• Ferreira A.P.S., Gomez R.S., Castro W.H., Calixto N.S., Silva R.A.P., Aguiar J.B. 2000. Congenital absence of lacrimal puncta and salivary glands: Report of a Brazilian family and review. Am J Med Genet 94: 32-34. [PubMed]
• Goss C.M. 1959. In: Goss CM , editor. Gray's Anatomy. 27th edition. Philadelphia: Lea and Febiger Press. p 1118.
• Hall J., Allanson J.E., Gripp K., Slavotinek A. 2007. Handbook of normal physical measurements. Oxford Medical Publishers, pp 132-139.
• Held J.L., Schneiderman P. 1990. A review of blepharochalasis and other causes of the lax, wrinkled eyelid. Cutis 45: 91-94. [PubMed]
• Korula S., Wilson L., Salomonson J. 1995. Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. Am J Med Genet 59: 229-233. [PubMed]
• Laestadius N.D., Aase J.M., Smith D.W. 1969. Normal inner canthal and outer orbital dimensions. J Pediatr 74: 465-468. [PubMed]
• Lemke B.N., Stasior O.G. 1981. Epiblepharon: An important and often missed diagnosis. Clin Pediatr 20: 661-662. [PubMed]
• Merlob P., Sivan Y., Reisner S.H. 1984. Anthropometric measurements of the newborn infant 27-41 gestational weeks. Birth Defects Orig Artic Ser 20: 1-52. [PubMed]
• Murphy W.K., Laskin D.M. 1990. Intercanthal and interpupillary distance in the Black population. Oral Surg Oral Med Oral Pathol 69: 676-680. [PubMed]
• Ogawa G.S.H., Gonnering R.S. 1991. Congenital nasolacrimal duct obstruction. J Pediatr 119: 12-17. [PubMed]
• Oley C., Baraitser M. 1988. Blepharophimosis, ptosis epicanthus inversus syndrome (BPES syndrome). J Med Genet 25: 47-51. [PubMed]
• Pucci N., Novembre E., Lombardi E., Massai C., Bernandine R., Caputo R., Campa L., Libero C., Vieruci A. 2005. Long eyelashes in a case series of 93 children with vernal keratoconjunctivities. Pediatrics 115: 86-91. [PubMed]
• Saal H.M., Traboulsi E.I., Gavaris P., Samango-Sprouse C.A., Parks M. 1992. Dominant syndrome with isolated cryptophthalmos and ocular anomalies. Am J Med Genet 43: 785-788. [PubMed]
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• Weiss A.H., Riscile G., Kouseff B.G. 1992. Ankyloblepharon filiforme adnatum. Am J Med Genet 42: 369-373. [PubMed]
• Wu K.H., Tsai F.J., Li T.C., Tsai C.H., Peng C.T., Wang T.R. 2000. Normal values of inner canthal distance, interpupillary distance and palpebral fissure length in normal Chinese children in Taiwan. Acta Paediatr Taiwan 41: 22-27. [PubMed]

Ear

• Chitayat D., Rothschild A., Ling E., Friedman J.M., Couch R.M., Yong S.L., Baldwin V.J., Hall J.G. 1990. Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome. Am J Med Genet 36: 434-439. [PubMed]
• Farkas L.G. 1981. Anthropometry of the head and face in medicine. New York: Elsevier. [PubMed]
• Feingold M., Bossert W.H. 1974. Normal values for selected physical parameters: An aid to syndrome delineation. BDOAS X 1-15. [PubMed]
• Ferrario V.F., Sforza C., Ciusa V., Serrao G., Tartaglia G.M. 1999. Morphometry of the normal ear: A cross-sectional study from adolescence to mid-adulthood. J Craniofac Genet Dev Biol 19: 226-233. [PubMed]
• Hall J.G., Allanson J.E., Gripp K.W., Slavotinek A.M. 2007. Handbook of Physical Measurements, 2nd edition. New York: Oxford University Press.
• Hirose T., Tomono T., Matsuo K., Katohda S., Takahashi N., Iwasawa M., Satoh R. 1985. Cryptotia: Our classification and treatment. Br J Plast Surg 38: 352-360. [PubMed]
• Hunter, A.G.W., Frias, F., Gillessen-Kaesbach, G., Hughes, H.E., Jones, K.L., Wilson, L. 2009. Elements of morphology: Standard terminology for the ear. Am J Med Genet Part A 149A: 40-60. [PubMed]
• Hunter A.G.W., Yotsuyanagi T. 2005. The external ear: More attention to detail may aid syndrome diagnosis and contribute answers to embryological questions. Am J Med Genet Part A 135A: 237-250. [PubMed]
• Itoh I., Ikeda M., Sueno K., Sugiura M., Suzuki S., Kida A. 2001. Anthropometric study on normal human auricle in Japan. Nippon Jibiinkoka Gakkai Kaiho 104: 165-174. [PubMed]
• Lange G. 1966. Familieuntersuchingen uber die Erblichkeit metrischer und morphologischer Merkmale des ausserer Ohres. Z Morphol Anthropol 57: 111-187. [PubMed]
• Park C., Roh T.S. 1999. Congenital upper auricular detachment. Plast Reconstr Surg 104: 488-490. [PubMed]
• Prescott T.E., Hennekam R.C. 2007. Posterior helical pits. Eur J Med Genet 50: 159-161. [PubMed]
• Priolo M., Lerone M., Rosaia L., Calcagno E.P., Sadeghi A.K., Ghezzi F., Ravazzolo R., Silengo M. 2000. Question mark ears, temporo-mandibular joint malformation and hypotonia: Auriculo-condylar syndrome or a distinct entity? Clin Dysmorphol 9: 277-280. [PubMed]
• Weerda H. 1988. Classification of congenital deformities of the auricle. Facial Plastic Surg 5: 385-388.
• Wood-Jones F., I-Chuan W. 1933. The development of the external ear. J Anat 68: 525-533. [PubMed]
• Yamada A., Fukuda O. 1980. Evaluation of Stahl's ear, third crus of antihelix. Ann Plast Surg 4: 511-515. [PubMed]

Nose and Philtrum

• Asahina I., Sakakibara T., Miyashin M., Tachikawa N., Enomoto S. 1997. Congenital midline sinus of the upper lip: Case report and review of literature. Cleft Palate Craniofac J 34: 83-85. [PubMed]
• Astley S.J., Clarren S.K. 1995. A fetal alcohol syndrome screening tool. Alcohol Clin Exp Res 19: 1565-1571. [PubMed]
• Farkas L.G. 1981. Anthropometry of the head and face in medicine. New York: Elsevier. [PubMed]
• Farkas L.G., Munro I.R. 1987. Anthropometric facial proportions in medicine. Springfield, IL: Charles C Thomas.
• Farkas L.G., Posnick J.C., Hreczko T.M., Pron G.E. 1992. Growth patterns of the nasolabial region: A morphometric study. Cleft Palate Craniofac J 29: 318-324. [PubMed]
• Feingold M. 2001. In: Gorlin RJ , Cohen MM Jr, Hennekam RCM , editors. Syndromes of the head and neck, 4th edition. New York: Oxford Univ Press. p 1223.
• Fok T.F., Hon K.L., So H.K., Wong E., Ng P.C., Lee A.K.Y., Chang A. 2003. Facial anthropometry of Hong Kong Chinese babies. Orthod Craniofacial Res 6: 164-172. [PubMed]
• Franz M.L., Sokol A.B. 1971. The proportioned philtrum: A helpful measurement and ratio. Cleft Palate J 1: 143-146. [PubMed]
• Gull I., Wolman I., Merlob P., Jaffa A.J., Lessing J.B., Yaron Y. 2005. Nomograms for the sonographic measurement of the fetal philtrum and chin. Fetal Diagn Ther 20: 127-131. [PubMed]
• Hajnis K. 1972. Kopf-, Ohrmuschel- und Handwachstum. Acta Univ Carol (Praha) 2: 77-294.
• Hall J.G., Allanson J.A., Gripp K., Slavotinek A. 2007. Handbook of normal physical measurements, 2nd edition. New York: Oxford University Press.
• Hennekam, R.C., Cormier-Daire, V., Hall, J., Méhes, K., Patton, M., Stevenson, R. 2009. Elements of morphology: Standard terminology for the nose and philtrum. Am J Med Genet Part A 149A: 61-76. [PubMed]
• Igarashi M., Kajii T. 1988. Normal values for physical parameters of the head, face and hand in Japanese children. Jpn J Human Genet 33: 9-31. [PubMed]
• McGrath P. 1992. The proboscis in human cyclopia: An anatomical study in 2 dimensions. J Anat 181: 139-149. [PubMed]
• Méhes K. 1981. Normal values for philtral length, oral intercommissural distance, and sternal length in normal newborn infants. J Craniofac Genet Dev Biol 1: 213-216. [PubMed]
• Méhes K. 1988. Informative morphogenetic variants in the newborn infant. Budapest: Akadémiai Kiad. pp 180-185.
• Pashayan H.M. 1983. Recommended descriptive terms for the upper lip and philtrum. J Clin Dysmorphol 1: 26-27. [PubMed]
• Queisser-Luft A., Wiesel A., Stolz G., Borck G., Schlaefer K., Zabel B., Spranger J. 2001. Klinisches Neugeborenen-screening zur Erfassung angeborener Fehlbildungen. Monatsschr Kinderheilk 149: 1319-1325.
• Stengel-Rutkowski S., Schimanek P., Wernheimer A. 1984. Anthropometric definitions of dysmorphic facial signs. Hum Genet 67: 272-295. [PubMed]
• Tateishi H., Kajii T. 1992. Physical parameters in Japanese newborns. Jpn J Human Genet 37: 223-228.
• Ward R.E., Jamison P.L. 1991. Measurement precision and reliability in craniofacial anthropometry: Implications and suggestions for clinical applications. J Craniofac Genet Dev Biol 11: 156-164. [PubMed]
• Zankl A., Eberle L., Molinari L., Schinzel A. 2002. Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. Am J Med Genet 111: 388-391. [PubMed]

Lips, Mouth, and Oral Region

• Aase J. 1990. Diagnostic dysmorphology. NY: Plenum Medical Book Co.
• Astley S.J., Clarren S.K. 2000. Diagnosing the full spectrum of fetal alcohol-exposed individuals: Introducing the 4-digit diagnostic code. Alcohol 35: 400-410. [PubMed]
• Cameron C., Widmer R.P. 2003. Handbook of Pediatric Dentistry. 2nd edition. Edinburgh: Mosby.
• Carey, J.C., Cohen, M.M. Jr., Curry, C., Devriendt, K., Holmes, L., Verloes, A. 2009. Elements of morphology: Standard terminology for the lips, mouth, and oral region. Am J Med Genet Part A 149A: 77-92. [PubMed]
• Farkas L. 1981. Anthropometry of the head and face in medicine. New York: Elsevier. [PubMed]
• Garn S.M., Rohmann C.G. 1966. Interaction of nutrition and genetics in the timing of tooth growth. Pediatr Clin North Am 13: 353-363.
• Gorlin R.G., Cohen M.M.C., Hennekam R.C. 2001. Syndromes of the head and neck. Oxford: Oxford Press.
• Hall J.G., Froster-Iskenius U.G., Allanson J.E., Gripp K., Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford: Oxford Medical, publishers.
• Kleigman R.M., Behrman R.E., Jenson H.B., Stanton B.F. 2007. Nelson's Textbook of Pediatrics. 18th edition. Philadelphia, PA: Saunders Elsevier. 47 p.
• Lunt R.C., Law D.B. 1974. A review of the chronology of eruption of deciduous teeth. J Am Dent Assoc 89: 872-879. [PubMed]
• McDonald R.E., Avery D.A., Dean J.A. 2004. Dentistry for the child and adolescent. St Louis: Mosby.
• Mok J., Suina R.M. 1986. Natal teeth in native americans. Am J Dis Child 140: 1214. [PubMed]
• Moyers R.E. 1973. Handbook of Orthodontics for the Student and Practitioner. 3rd edition. Chicago: Yearbook.
• Moyers R.E, Van der Linden F., Riolo M.L., McNamara J.A. 1976. Standards of human occlusal development. Ann Arbor, MI: Center for Human Growth and Development.
• Standing S. 2005. Gray's anatomy: The anatomical basis of clinical practice. Edinburg: Elsevier.

Hands and Feet

• Aase J.M. 1990. Diagnostic dysmorphology. New York: Plenum Medical Book Co. 299 p.
• Anderson M., Blais M.M, Green WT. 1956. Lengths of the growing foot. J Bone Joint Surg Am 38-A: 998-1000. [PubMed]
• Biesecker L.G. 2007. A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: A physical finding useful for the differential diagnosis of polydactyly. Am J Med Genet Part A 143A: 1788-1789. [PubMed]
• Biesecker, L.G., Aase, J.M., Clericuzio, C., Gurrieri, F., Temple, K., Toriello, H. 2009. Elements of morphology: Standard terminology for the hands and feet. Am J Med Genet Part A 149A: 93-127. [PubMed]
• Feingold M., Bossert W.H. 1974. Normal values for selected physical parameters: An aid to syndrome delineation. Birth Defects Orig Artic Ser 10: 1-16. [PubMed]
• Frantz C.H., O'Rahilly R. 1961. Congenital skeletal limb deficiencies. J Bone Joint Surg Am 43A: 1202-1224.
• Hall J.G., Allanson J., Gripp K.W., Slavotinek A. 2007. Handbook of physical measurements. Oxford: Oxford University Press. 507 p.
• Hook E.B., Bonenfant R., Powers M.L., Greenberg M., Shapiro L.R. 1974. The human simian crease and its variants. A model for investigation of serious congenital malformation. Birth Defects Orig Artic Ser 10: 7-16. [PubMed]
• Malina R.M., Hamill P.V.V., Lemeshow S. 1973. In: Roche A.F., Malina R.M., editors. Manual of physical status and performance in childhood. New York: Plenum. pp. 1048-1056.
• Merlob P., Sivan Y., Reisner S.H. 1984. Lower limb standards in newborns. Am J Dis Child 138: 140-142. [PubMed]
• Ozonoff M.B. 1992. Pediatric orthopedic radiology. Philadelphia: Saunders. xii, 803 p.
• Poznanski A.K. 1984. The hand in radiologic diagnosis. 2nd edition. Philadelphia: Saunders. pp. 266-278.
• Saul R.A, Seaver L.H., Sweet K.M., Geer J.S., Phelan M.C., Mills C.M. 1998. Growth references: Third trimester to adulthood. Greenville: Keys Printing.
• Seaborg B., Bodurtha J. 1989. Nail size in normal infants. Establishing standards for healthy term infants. Clin Pediatr (Phila) 28: 142-145. [PubMed]
• Swanson A.B. 1976. A classification for congenital limb malformations. J Hand Surg [Am] 1: 8-22.
• Swanson A.B., Barsky A.J., Entin M.A. 1968. Classification of limb malformations on the basis of embryological failures. Surg Clin North Am 48: 1169-1179. [PubMed]
• Temtamy S., McKusick V.A. 1969. Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects Orig Artic Ser 5: 125-184.
• Young C.C., Niedfeldt M.W., Morris G.A., Eerkes K.J. 2005. Clinical examination of the foot and ankle. Prim Care 32: 105-132. [PubMed]