Congenital craniofacial deformities

1. This youngster is being followed for symptoms related to his right-sided cranial asymmetry noted at birth, including neurologic impairment (sensorineural hearing loss and visual problems including strabismus) and breathing problems; developmental delay and/or intellectual disability; and hydrocephalus. The hands and feet are normal.

Source: By Michael L. Kaufman at the English language Wikipedia, CC BY-SA 3.0

Diagnosis: Craniosynostosis, also known as acrocephalosyndactyly, is a condition in which the skull sutures close prematurely. This can cause pressure to build up inside the head and skull or facial bones, leading to a misshapen head and distinctive facial features—ocular hypertelorism, proptosis, midface hypoplasia, small beaked nose, and prognathism—and occasionally abnormal fingers and toes.

Mutations of the FGFR gene, which regulates the fibroblast growth factor receptor protein, are responsible for the eight disorders comprising the FGFR-related craniosynostosis spectrum. The protein plays an important role in bone growth, particularly during embryonic development. For example, this protein signals certain immature cells in the developing embryo to become bone cells in the head, hands, feet, and other tissues.

For more information, see Robin NH, MD, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. In: GeneReviews^® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al, eds. Seattle: University of Washington, Seattle; 1993-2016.

For the next photograph, proceed to the next page >>

2. This infant presents with a misshapen cranium, most notably the flattened area on the posterior right side. His history includes limited passive neck rotation at birth, preferential head orientation, supine sleep position, and lower activity level.

Source: Wikimedia Commons; By Medical advises - http://larece.ru/?p=27115, CC BY-SA 3.0

Diagnosis: Plagiocephaly, literally means "oblique head" (from the Greek "plagio" for oblique and "cephale" for head). The incidence in infants at 7 to 12 weeks of age is estimated to be 46.6%. Of all infants with plagiocephaly, 63.2% are affected on the right side and 78.3% have a mild form.

For more information, see “Helmets for Positional Skull Deformities: A Good Idea or Not?” Clin Rev. 2015;25(2):16,18. 

For the next photograph, proceed to the next page >>

3. An adolescent patient presents with marked facial asymmetry, present since birth. The auricular tissue on the left side is malformed; on the right side, low set. The right midface is underdeveloped with micrognathia and chin deviation, resulting in malocclusion.

Source: Wikimedia Commons

Diagnosis: Craniofacial microsomia, possibly caused by bleeding in the temporal area during gestation, describes a spectrum of cranial and facial abnormalities. After Down syndrome, it is the most common congenital syndrome, occurring in approximately 1 in 3,500 to 4,500 live births. In about two-thirds of cases, abnormalities differ from one side to the other.

These individuals typically demonstrate one-sided maxillary or mandibular hypoplasia, which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.

Abnormalities affecting one or both ears may range from preauricular tags to an underdeveloped or absent external ear or a closed or absent ear canal; these patients may experience hearing loss. Microphthalmia, occurring less frequently, may result in vision loss.

For more information, see Heike CL, Luquetti DV, Hing AV. Craniofacial microsomia overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews^® [Internet]. Seattle: University of Washington, Seattle; 1993-2016.

For the next photograph, proceed to the next page >>

4. A 4-month-old boy is brought in by his mother for evaluation of a “birthmark” on his forehead that has become more prominent with time. The child complains a bit when the lesion is touched.

His mother gives a history of a normal full-term pregnancy with an uneventful delivery. Other than the skin lesion, there have been no other known problems with the child’s health.

Diagnosis: Most first-year medical students could tell you this was a case of an infantile hemangioma—but within the past five years, the categorization and treatment of hemangiomas have changed rapidly.

Hemangiomas are benign and usually self-involuting vascular tumors. They are distinct from the family of permanent congenital vascular lesions, such as port wine stains. About 80% occur on the face or neck and more commonly in females. Those that occur near the skin’s surface tend to be bright red, while those of deeper origin are more bluish. Hemangiomas can also manifest in extracutaneous areas (eg, the liver); these are usually detected via imaging.

For more information, see “A New Approach to “Birthmarks” Clin Rev. 2016;26(3):W1.

RELATED ARTICLE:
Infantile Hemangiomas Increasing, Linked to Prematurity, Low Birth Weight Bruce Jancin, Family Practice News Digital Network 

1. This youngster is being followed for symptoms related to his right-sided cranial asymmetry noted at birth, including neurologic impairment (sensorineural hearing loss and visual problems including strabismus) and breathing problems; developmental delay and/or intellectual disability; and hydrocephalus. The hands and feet are normal.

Source: By Michael L. Kaufman at the English language Wikipedia, CC BY-SA 3.0

Diagnosis: Craniosynostosis, also known as acrocephalosyndactyly, is a condition in which the skull sutures close prematurely. This can cause pressure to build up inside the head and skull or facial bones, leading to a misshapen head and distinctive facial features—ocular hypertelorism, proptosis, midface hypoplasia, small beaked nose, and prognathism—and occasionally abnormal fingers and toes.

Mutations of the FGFR gene, which regulates the fibroblast growth factor receptor protein, are responsible for the eight disorders comprising the FGFR-related craniosynostosis spectrum. The protein plays an important role in bone growth, particularly during embryonic development. For example, this protein signals certain immature cells in the developing embryo to become bone cells in the head, hands, feet, and other tissues.

For more information, see Robin NH, MD, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. In: GeneReviews^® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al, eds. Seattle: University of Washington, Seattle; 1993-2016.

For the next photograph, proceed to the next page >>

2. This infant presents with a misshapen cranium, most notably the flattened area on the posterior right side. His history includes limited passive neck rotation at birth, preferential head orientation, supine sleep position, and lower activity level.

Source: Wikimedia Commons; By Medical advises - http://larece.ru/?p=27115, CC BY-SA 3.0

Diagnosis: Plagiocephaly, literally means "oblique head" (from the Greek "plagio" for oblique and "cephale" for head). The incidence in infants at 7 to 12 weeks of age is estimated to be 46.6%. Of all infants with plagiocephaly, 63.2% are affected on the right side and 78.3% have a mild form.

For more information, see “Helmets for Positional Skull Deformities: A Good Idea or Not?” Clin Rev. 2015;25(2):16,18. 

For the next photograph, proceed to the next page >>

3. An adolescent patient presents with marked facial asymmetry, present since birth. The auricular tissue on the left side is malformed; on the right side, low set. The right midface is underdeveloped with micrognathia and chin deviation, resulting in malocclusion.

Source: Wikimedia Commons

Diagnosis: Craniofacial microsomia, possibly caused by bleeding in the temporal area during gestation, describes a spectrum of cranial and facial abnormalities. After Down syndrome, it is the most common congenital syndrome, occurring in approximately 1 in 3,500 to 4,500 live births. In about two-thirds of cases, abnormalities differ from one side to the other.

These individuals typically demonstrate one-sided maxillary or mandibular hypoplasia, which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.

Abnormalities affecting one or both ears may range from preauricular tags to an underdeveloped or absent external ear or a closed or absent ear canal; these patients may experience hearing loss. Microphthalmia, occurring less frequently, may result in vision loss.

For more information, see Heike CL, Luquetti DV, Hing AV. Craniofacial microsomia overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews^® [Internet]. Seattle: University of Washington, Seattle; 1993-2016.

For the next photograph, proceed to the next page >>

4. A 4-month-old boy is brought in by his mother for evaluation of a “birthmark” on his forehead that has become more prominent with time. The child complains a bit when the lesion is touched.

His mother gives a history of a normal full-term pregnancy with an uneventful delivery. Other than the skin lesion, there have been no other known problems with the child’s health.

Diagnosis: Most first-year medical students could tell you this was a case of an infantile hemangioma—but within the past five years, the categorization and treatment of hemangiomas have changed rapidly.

Hemangiomas are benign and usually self-involuting vascular tumors. They are distinct from the family of permanent congenital vascular lesions, such as port wine stains. About 80% occur on the face or neck and more commonly in females. Those that occur near the skin’s surface tend to be bright red, while those of deeper origin are more bluish. Hemangiomas can also manifest in extracutaneous areas (eg, the liver); these are usually detected via imaging.

For more information, see “A New Approach to “Birthmarks” Clin Rev. 2016;26(3):W1.

RELATED ARTICLE:
Infantile Hemangiomas Increasing, Linked to Prematurity, Low Birth Weight Bruce Jancin, Family Practice News Digital Network 

1. This youngster is being followed for symptoms related to his right-sided cranial asymmetry noted at birth, including neurologic impairment (sensorineural hearing loss and visual problems including strabismus) and breathing problems; developmental delay and/or intellectual disability; and hydrocephalus. The hands and feet are normal.

Source: By Michael L. Kaufman at the English language Wikipedia, CC BY-SA 3.0

Diagnosis: Craniosynostosis, also known as acrocephalosyndactyly, is a condition in which the skull sutures close prematurely. This can cause pressure to build up inside the head and skull or facial bones, leading to a misshapen head and distinctive facial features—ocular hypertelorism, proptosis, midface hypoplasia, small beaked nose, and prognathism—and occasionally abnormal fingers and toes.

Mutations of the FGFR gene, which regulates the fibroblast growth factor receptor protein, are responsible for the eight disorders comprising the FGFR-related craniosynostosis spectrum. The protein plays an important role in bone growth, particularly during embryonic development. For example, this protein signals certain immature cells in the developing embryo to become bone cells in the head, hands, feet, and other tissues.

For more information, see Robin NH, MD, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. In: GeneReviews^® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al, eds. Seattle: University of Washington, Seattle; 1993-2016.

For the next photograph, proceed to the next page >>

2. This infant presents with a misshapen cranium, most notably the flattened area on the posterior right side. His history includes limited passive neck rotation at birth, preferential head orientation, supine sleep position, and lower activity level.

Source: Wikimedia Commons; By Medical advises - http://larece.ru/?p=27115, CC BY-SA 3.0

Diagnosis: Plagiocephaly, literally means "oblique head" (from the Greek "plagio" for oblique and "cephale" for head). The incidence in infants at 7 to 12 weeks of age is estimated to be 46.6%. Of all infants with plagiocephaly, 63.2% are affected on the right side and 78.3% have a mild form.

For more information, see “Helmets for Positional Skull Deformities: A Good Idea or Not?” Clin Rev. 2015;25(2):16,18. 

For the next photograph, proceed to the next page >>

3. An adolescent patient presents with marked facial asymmetry, present since birth. The auricular tissue on the left side is malformed; on the right side, low set. The right midface is underdeveloped with micrognathia and chin deviation, resulting in malocclusion.

Source: Wikimedia Commons

Diagnosis: Craniofacial microsomia, possibly caused by bleeding in the temporal area during gestation, describes a spectrum of cranial and facial abnormalities. After Down syndrome, it is the most common congenital syndrome, occurring in approximately 1 in 3,500 to 4,500 live births. In about two-thirds of cases, abnormalities differ from one side to the other.

These individuals typically demonstrate one-sided maxillary or mandibular hypoplasia, which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.

Abnormalities affecting one or both ears may range from preauricular tags to an underdeveloped or absent external ear or a closed or absent ear canal; these patients may experience hearing loss. Microphthalmia, occurring less frequently, may result in vision loss.

For more information, see Heike CL, Luquetti DV, Hing AV. Craniofacial microsomia overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews^® [Internet]. Seattle: University of Washington, Seattle; 1993-2016.

For the next photograph, proceed to the next page >>

4. A 4-month-old boy is brought in by his mother for evaluation of a “birthmark” on his forehead that has become more prominent with time. The child complains a bit when the lesion is touched.

His mother gives a history of a normal full-term pregnancy with an uneventful delivery. Other than the skin lesion, there have been no other known problems with the child’s health.

Diagnosis: Most first-year medical students could tell you this was a case of an infantile hemangioma—but within the past five years, the categorization and treatment of hemangiomas have changed rapidly.

Hemangiomas are benign and usually self-involuting vascular tumors. They are distinct from the family of permanent congenital vascular lesions, such as port wine stains. About 80% occur on the face or neck and more commonly in females. Those that occur near the skin’s surface tend to be bright red, while those of deeper origin are more bluish. Hemangiomas can also manifest in extracutaneous areas (eg, the liver); these are usually detected via imaging.

For more information, see “A New Approach to “Birthmarks” Clin Rev. 2016;26(3):W1.

RELATED ARTICLE:
Infantile Hemangiomas Increasing, Linked to Prematurity, Low Birth Weight Bruce Jancin, Family Practice News Digital Network