Clinical Genetics 1978: 14: 80-82
Microtia and meatal atresia in mother and son J. GLJIZAR-V;\ZQUEZ, F. ARREDONDO-VEGA, I. ROSTENBERG, c. MANZANOl S. ARMENDARES
AND
Division of Human Genetics and 1 Department of Radiology, Pediatric Hospital, National Medical Center, Mexico The present paper describes a family in which a mother and son are affected with microtia and meatal atresia. The pedigree suggests autosomal dominant inheritance. Received 20 November 1977, revised 20 February, accepted for publication 20 March 1978 K e y words: Branchial region; ear external; facial asymmetry.
The wide spectrum of malformations described as anomalies of the first and second branchial arches has complicated the analysis of their genetic component. However, some of them are considered to be syndromes with a Mendelian pattern of inheritance; e.g. Goldenhar’s syndrome, TreacherCollins syndrome, Stickler’s syndrome, and Pierre Robin’s syndrome (McKusick 1975). Among these syndromes can be included microtia and meatal atresia with suggested autosomal recessive inheritance (Ellwood et al. 1968, Dar & Winter 1973). The present paper describes a family in which a mother and son are affected with microtia and meatal atresia. Case Reports
The propositus is the first-born mestizo male child of non-consanguineous parents. The mother was 24 years old and the father 31 years old at the time of the child’s birth. He was born at term after a normal pregnancy, during which the mother had not
been exposed to drugs, radiation or infectious diseases. Delivery was normal, as was the neonatal period, and the birth weight was 3.6 kg. Except for the malformed left ear, growth and development were considered to be normal by the parents. He was seen for the first time at the age of 7 years 4 months. Clinical findings at that time showed: weight 19.8 kg; height 113.0 cm; head circumference 53.0 cm; left ear represented by remains of the lobe and concha, and meatal atresia was observed (Fig. 1C and D); normal right ear; broad nasal bridge and nose; large filtrum and slight macrostomia. A mesosystolic precordial murmur was heard, and complete cardiological examination revealed inactive rheumatic stenosis of the mitral valve. Otological examination showed meatal atresia and minimal conductive hearing loss. Neurological and ophthalmological examinations gave normal results; I.Q. was 93 (Bender). X-ray examination showed: hypopneuma-
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81
Fig. 1. Clinical characteristics of mother (A and 6 ) and son (C and D).
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tization of the left mastoid bone; absence of the 12th right costal arch, with hypoplasia of the left arch; and spina bifida occults at L-5 level. An intravenous pyelogram was normal. Laboratory studies, including complete blood count, urinalysis, pharyngeal culture, antistreptolysins and Sabin and Feldman tests were within normal limits, or negative. Case 2 is the proband’s mother. No other members of her family are known to have congenital anomalies of the ears and face. Physical examination revealed: malformed right ear, represented only by the remains of the lobe and concha, and there was meatal atresia (Fig. 1A and B); normal left ear; broad nasal bridge and nose; large filtrum; macrostomia, accentuated by a right oral commissure along the orotragal line. Neurological examination revealed Bell’s palsy, manifested by drooping of the right commissure and inability to close the eye of the same side. Bone conduction tests showed minimal decreased hearing, indicating a conductive loss. X-ray examination revealed facial assymmetry, due to hypoplasia of the left zygomatic arch and deficiency in the rami of the mandible; hypopneumatization of the right mastoid bone; and hypoplasia of both 12th costal arches. The intravenous pyelogram was normal. The other members of the family (the proband‘s father and two sibs) were normal at clinical examination and audiometric evaluation.
Comments
The cases reported here do not seem to correspond t o other well-known syndromes of the first and second branchial arches, such as the Treacher-Collins syndrome or Goldenhar’s syndrome. Our cases d o not have the defects of the zygomatic arches, or the coloboma of the lower lids characteristic of the former (Rogers 1964), nor d o they have the epibulbar dermoid or other anomalies considered typical of the latter. Acknowledgments
This work was partially supported by a grant from the Ford Foundation. We are extremely grateful to Mr. Marcelina Castillo for the preparation of the graphic material, and to Miss Luz Elena Hernandez de Alba for her efficient secretarial assistance. References
Dar, H. & S. T. Winter (1973). Familial microtia and meatal atresia. J . rned. Genet. 10, 305-306. Ellwood, L. C . , S . T. Winter & H. Dar (1968). Familial microtia with meatal atresia in two sibships. J . rned. Genet. 5, 289-291. McKusick, V. A. (1975). Mendelian Inheritance in Man. Baltimore, The John Hopkins Press, pp. 501. Rogers, B. 0. (1964). Berry-Treacher Collins Syndrome: a review of 200 cases. Brit. 1. plast. Surg. 17, 109-137.
Address: Jesus Guizar-Vazquez, M . D . Divisidn d e Investigacidn en GenCtica Humana Subjefatura de lnvestigacidn Clinica, I.M.S.S. A p d o . Postal 73-032 Mexico 7 3 , D.F.
Microtia and meatal atresia in mother and son J. GLJIZAR-V;\ZQUEZ, F. ARREDONDO-VEGA, I. ROSTENBERG, c. MANZANOl S. ARMENDARES
AND
Division of Human Genetics and 1 Department of Radiology, Pediatric Hospital, National Medical Center, Mexico The present paper describes a family in which a mother and son are affected with microtia and meatal atresia. The pedigree suggests autosomal dominant inheritance. Received 20 November 1977, revised 20 February, accepted for publication 20 March 1978 K e y words: Branchial region; ear external; facial asymmetry.
The wide spectrum of malformations described as anomalies of the first and second branchial arches has complicated the analysis of their genetic component. However, some of them are considered to be syndromes with a Mendelian pattern of inheritance; e.g. Goldenhar’s syndrome, TreacherCollins syndrome, Stickler’s syndrome, and Pierre Robin’s syndrome (McKusick 1975). Among these syndromes can be included microtia and meatal atresia with suggested autosomal recessive inheritance (Ellwood et al. 1968, Dar & Winter 1973). The present paper describes a family in which a mother and son are affected with microtia and meatal atresia. Case Reports
The propositus is the first-born mestizo male child of non-consanguineous parents. The mother was 24 years old and the father 31 years old at the time of the child’s birth. He was born at term after a normal pregnancy, during which the mother had not
been exposed to drugs, radiation or infectious diseases. Delivery was normal, as was the neonatal period, and the birth weight was 3.6 kg. Except for the malformed left ear, growth and development were considered to be normal by the parents. He was seen for the first time at the age of 7 years 4 months. Clinical findings at that time showed: weight 19.8 kg; height 113.0 cm; head circumference 53.0 cm; left ear represented by remains of the lobe and concha, and meatal atresia was observed (Fig. 1C and D); normal right ear; broad nasal bridge and nose; large filtrum and slight macrostomia. A mesosystolic precordial murmur was heard, and complete cardiological examination revealed inactive rheumatic stenosis of the mitral valve. Otological examination showed meatal atresia and minimal conductive hearing loss. Neurological and ophthalmological examinations gave normal results; I.Q. was 93 (Bender). X-ray examination showed: hypopneuma-
GUIZAR-VAZQUEZ ET AL.
81
Fig. 1. Clinical characteristics of mother (A and 6 ) and son (C and D).
82
GUIZAR-VAZQUEZ ET AL
tization of the left mastoid bone; absence of the 12th right costal arch, with hypoplasia of the left arch; and spina bifida occults at L-5 level. An intravenous pyelogram was normal. Laboratory studies, including complete blood count, urinalysis, pharyngeal culture, antistreptolysins and Sabin and Feldman tests were within normal limits, or negative. Case 2 is the proband’s mother. No other members of her family are known to have congenital anomalies of the ears and face. Physical examination revealed: malformed right ear, represented only by the remains of the lobe and concha, and there was meatal atresia (Fig. 1A and B); normal left ear; broad nasal bridge and nose; large filtrum; macrostomia, accentuated by a right oral commissure along the orotragal line. Neurological examination revealed Bell’s palsy, manifested by drooping of the right commissure and inability to close the eye of the same side. Bone conduction tests showed minimal decreased hearing, indicating a conductive loss. X-ray examination revealed facial assymmetry, due to hypoplasia of the left zygomatic arch and deficiency in the rami of the mandible; hypopneumatization of the right mastoid bone; and hypoplasia of both 12th costal arches. The intravenous pyelogram was normal. The other members of the family (the proband‘s father and two sibs) were normal at clinical examination and audiometric evaluation.
Comments
The cases reported here do not seem to correspond t o other well-known syndromes of the first and second branchial arches, such as the Treacher-Collins syndrome or Goldenhar’s syndrome. Our cases d o not have the defects of the zygomatic arches, or the coloboma of the lower lids characteristic of the former (Rogers 1964), nor d o they have the epibulbar dermoid or other anomalies considered typical of the latter. Acknowledgments
This work was partially supported by a grant from the Ford Foundation. We are extremely grateful to Mr. Marcelina Castillo for the preparation of the graphic material, and to Miss Luz Elena Hernandez de Alba for her efficient secretarial assistance. References
Dar, H. & S. T. Winter (1973). Familial microtia and meatal atresia. J . rned. Genet. 10, 305-306. Ellwood, L. C . , S . T. Winter & H. Dar (1968). Familial microtia with meatal atresia in two sibships. J . rned. Genet. 5, 289-291. McKusick, V. A. (1975). Mendelian Inheritance in Man. Baltimore, The John Hopkins Press, pp. 501. Rogers, B. 0. (1964). Berry-Treacher Collins Syndrome: a review of 200 cases. Brit. 1. plast. Surg. 17, 109-137.
Address: Jesus Guizar-Vazquez, M . D . Divisidn d e Investigacidn en GenCtica Humana Subjefatura de lnvestigacidn Clinica, I.M.S.S. A p d o . Postal 73-032 Mexico 7 3 , D.F.
